Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Thr184ArgfsTer36 (p.T184Rfs*36)
(
ENST00000397163.8,
ENST00000349748.8,
ENST00000318023.11,
ENST00000357568.8 )
CAPN3 p.Ser194ProfsTer26 (p.S194Pfs*26) ( ENST00000349748.8, ENST00000318023.11, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Phe200_Leu204del (p.F200_L204del) ( ENST00000318023.11, ENST00000357568.8, ENST00000349748.8, ENST00000397163.8 )
CAPN3 p.Lys254del (p.K254del) ( ENST00000397163.8, ENST00000349748.8, ENST00000357568.8, ENST00000318023.11 )
CAPN3 p.Ile661Ter (p.I661*) ( ENST00000673851.1, ENST00000397204.9, ENST00000673886.1, ENST00000673928.1, ENST00000397163.8, ENST00000673743.1, ENST00000673771.1, ENST00000674093.1, ENST00000569136.6, ENST00000674119.1, ENST00000673692.1, ENST00000318023.11, ENST00000337571.9, ENST00000674149.1, ENST00000561817.5, ENST00000673978.1, ENST00000397200.8, ENST00000357568.8, ENST00000674052.1, ENST00000673750.1, ENST00000673890.1, ENST00000349748.8, ENST00000674139.1, ENST00000674146.1, ENST00000673936.1, ENST00000674018.1 )
CAPN3 p.Thr736ArgfsTer28 (p.T736Rfs*28) ( ENST00000674119.1, ENST00000673692.1, ENST00000318023.11, ENST00000337571.9, ENST00000674149.1, ENST00000561817.5, ENST00000673978.1, ENST00000397200.8, ENST00000357568.8, ENST00000674052.1, ENST00000673750.1, ENST00000673890.1, ENST00000349748.8, ENST00000674139.1, ENST00000674146.1, ENST00000673936.1, ENST00000674018.1, ENST00000673851.1, ENST00000397204.9, ENST00000673886.1, ENST00000673928.1, ENST00000397163.8, ENST00000673743.1, ENST00000673771.1, ENST00000674093.1, ENST00000569136.6 )
CAPN3 p.Thr184ArgfsTer36 (p.T184Rfs*36) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Ser194ProfsTer26 (p.S194Pfs*26) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Phe200_Leu204del (p.F200_L204del) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Lys254del (p.K254del) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Ile661Ter (p.I661*) ( ENST00000318023.11, ENST00000337571.9, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8, ENST00000397204.9, ENST00000561817.5, ENST00000569136.6, ENST00000673692.1, ENST00000673743.1, ENST00000673750.1, ENST00000673771.1, ENST00000673851.1, ENST00000673886.1, ENST00000673890.1, ENST00000673928.1, ENST00000673936.1, ENST00000673978.1, ENST00000674018.1, ENST00000674052.1, ENST00000674093.1, ENST00000674119.1, ENST00000674139.1, ENST00000674146.1, ENST00000674149.1 )
CAPN3 p.Thr736ArgfsTer28 (p.T736Rfs*28) ( ENST00000318023.11, ENST00000337571.9, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8, ENST00000397204.9, ENST00000561817.5, ENST00000569136.6, ENST00000673692.1, ENST00000673743.1, ENST00000673750.1, ENST00000673771.1, ENST00000673851.1, ENST00000673886.1, ENST00000673890.1, ENST00000673928.1, ENST00000673936.1, ENST00000673978.1, ENST00000674018.1, ENST00000674052.1, ENST00000674093.1, ENST00000674119.1, ENST00000674139.1, ENST00000674146.1, ENST00000674149.1 )
CAPN3 p.Ala45Thr (p.A45T) ( ENST00000349748.8, ENST00000357568.8, ENST00000318023.11, ENST00000397163.8 )
CAPN3 p.Arg49Cys (p.R49C) ( ENST00000349748.8, ENST00000397163.8, ENST00000318023.11, ENST00000357568.8 )
CAPN3 p.Ser86Phe (p.S86F) ( ENST00000357568.8, ENST00000318023.11, ENST00000349748.8, ENST00000397163.8 )
CAPN3 p.Glu107Lys (p.E107K) ( ENST00000397163.8, ENST00000349748.8, ENST00000318023.11, ENST00000357568.8 )
CAPN3 p.Arg110= (p.R110=) ( ENST00000397163.8, ENST00000349748.8, ENST00000357568.8, ENST00000318023.11 )
CAPN3 p.Arg110Ter (p.R110*) ( ENST00000397163.8, ENST00000349748.8, ENST00000318023.11, ENST00000357568.8 )
CAPN3 p.Gly124Ala (p.G124A) ( ENST00000349748.8, ENST00000357568.8, ENST00000318023.11, ENST00000397163.8 )
CAPN3 p.Leu189Pro (p.L189P) ( ENST00000357568.8, ENST00000318023.11, ENST00000349748.8, ENST00000397163.8 )
CAPN3 c.946-1G>A ( ENST00000397163.8, ENST00000318023.11, ENST00000357568.8, ENST00000349748.8 )
CAPN3 p.Pro319Leu (p.P319L) ( ENST00000318023.11, ENST00000357568.8, ENST00000349748.8, ENST00000397163.8 )
CAPN3 p.Trp360Cys (p.W360C) ( ENST00000397163.8, ENST00000357568.8, ENST00000318023.11, ENST00000349748.8 )
CAPN3 p.Trp373Arg (p.W373R) ( ENST00000397163.8, ENST00000349748.8, ENST00000318023.11, ENST00000357568.8 )
CAPN3 c.1194-9A>G ( ENST00000349748.8, ENST00000318023.11, ENST00000397163.8, ENST00000357568.8 )
CAPN3 p.Arg440Gln (p.R440Q) ( ENST00000397163.8, ENST00000349748.8, ENST00000318023.11, ENST00000357568.8 )
CAPN3 p.Arg440Pro (p.R440P) ( ENST00000349748.8, ENST00000357568.8, ENST00000318023.11, ENST00000397163.8 )
CAPN3 p.Arg490Trp (p.R490W) ( ENST00000318023.11, ENST00000357568.8, ENST00000349748.8, ENST00000397163.8 )
CAPN3 p.Arg490Gln (p.R490Q) ( ENST00000397163.8, ENST00000318023.11, ENST00000357568.8, ENST00000349748.8 )
CAPN3 p.Arg490Pro (p.R490P) ( ENST00000397163.8, ENST00000357568.8, ENST00000318023.11, ENST00000349748.8 )
CAPN3 p.Arg493Trp (p.R493W) ( ENST00000349748.8, ENST00000357568.8, ENST00000318023.11, ENST00000397163.8 )
CAPN3 p.Gly567Trp (p.G567W) ( ENST00000349748.8, ENST00000357568.8, ENST00000397200.8, ENST00000318023.11, ENST00000397163.8 )
CAPN3 p.Arg572Gln (p.R572Q) ( ENST00000349748.8, ENST00000357568.8, ENST00000397200.8, ENST00000318023.11, ENST00000397163.8 )
CAPN3 p.Arg572Leu (p.R572L) ( ENST00000349748.8, ENST00000397200.8, ENST00000357568.8, ENST00000318023.11, ENST00000397163.8 )
CAPN3 p.Arg748Gln (p.R748Q) ( ENST00000673890.1, ENST00000673692.1, ENST00000569136.6, ENST00000673771.1, ENST00000673743.1, ENST00000674093.1, ENST00000397163.8, ENST00000673928.1, ENST00000397204.9, ENST00000673886.1, ENST00000673851.1, ENST00000349748.8, ENST00000674139.1, ENST00000673936.1, ENST00000674018.1, ENST00000674146.1, ENST00000673750.1, ENST00000674052.1, ENST00000337571.9, ENST00000357568.8, ENST00000561817.5, ENST00000673978.1, ENST00000674149.1, ENST00000397200.8, ENST00000674119.1, ENST00000318023.11 )
CAPN3 p.Arg769Gln (p.R769Q) ( ENST00000337571.9, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8, ENST00000397204.9, ENST00000349748.8, ENST00000569136.6, ENST00000561817.5, ENST00000318023.11, ENST00000673743.1, ENST00000673771.1, ENST00000674093.1, ENST00000674119.1, ENST00000673692.1, ENST00000674018.1, ENST00000673936.1, ENST00000674139.1, ENST00000674146.1, ENST00000674149.1, ENST00000673978.1, ENST00000673750.1, ENST00000673890.1, ENST00000674052.1, ENST00000673886.1, ENST00000673928.1, ENST00000673851.1 )
CAPN3 p.Asp780His (p.D780H) ( ENST00000673743.1, ENST00000673771.1, ENST00000674093.1, ENST00000569136.6, ENST00000673851.1, ENST00000673928.1, ENST00000397163.8, ENST00000397204.9, ENST00000673886.1, ENST00000673750.1, ENST00000674052.1, ENST00000673890.1, ENST00000349748.8, ENST00000674139.1, ENST00000674146.1, ENST00000673936.1, ENST00000674018.1, ENST00000674119.1, ENST00000673692.1, ENST00000318023.11, ENST00000337571.9, ENST00000674149.1, ENST00000673978.1, ENST00000561817.5, ENST00000397200.8, ENST00000357568.8 )
CAPN3 p.Ala798Glu (p.A798E) ( ENST00000673851.1, ENST00000397204.9, ENST00000673886.1, ENST00000673928.1, ENST00000397163.8, ENST00000674093.1, ENST00000673771.1, ENST00000673743.1, ENST00000569136.6, ENST00000318023.11, ENST00000674119.1, ENST00000673692.1, ENST00000357568.8, ENST00000397200.8, ENST00000674149.1, ENST00000673978.1, ENST00000561817.5, ENST00000337571.9, ENST00000673890.1, ENST00000674052.1, ENST00000673750.1, ENST00000674018.1, ENST00000673936.1, ENST00000674146.1, ENST00000674139.1, ENST00000349748.8 )
CAPN3 p.Ala45Thr (p.A45T) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Arg49Cys (p.R49C) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Ser86Phe (p.S86F) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Glu107Lys (p.E107K) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Arg110= (p.R110=) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Arg110Ter (p.R110*) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Gly124Ala (p.G124A) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Leu189Pro (p.L189P) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 c.946-1G>A ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Pro319Leu (p.P319L) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Trp360Cys (p.W360C) ( ENST00000397163.8, ENST00000318023.11, ENST00000349748.8, ENST00000357568.8 )
CAPN3 p.Trp373Arg (p.W373R) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 c.1194-9A>G ( ENST00000397163.8, ENST00000318023.11, ENST00000349748.8, ENST00000357568.8 )
CAPN3 p.Arg440Gln (p.R440Q) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Arg440Pro (p.R440P) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Arg490Trp (p.R490W) ( ENST00000397163.8, ENST00000318023.11, ENST00000349748.8, ENST00000357568.8 )
CAPN3 p.Arg490Gln (p.R490Q) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Arg490Pro (p.R490P) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8 )
CAPN3 p.Arg493Trp (p.R493W) ( ENST00000357568.8, ENST00000318023.11, ENST00000349748.8, ENST00000397163.8 )
CAPN3 p.Gly567Trp (p.G567W) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8 )
CAPN3 p.Arg572Gln (p.R572Q) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8 )
CAPN3 p.Arg572Leu (p.R572L) ( ENST00000318023.11, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8 )
CAPN3 p.Arg748Gln (p.R748Q) ( ENST00000318023.11, ENST00000337571.9, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8, ENST00000397204.9, ENST00000561817.5, ENST00000569136.6, ENST00000673692.1, ENST00000673743.1, ENST00000673750.1, ENST00000673771.1, ENST00000673851.1, ENST00000673886.1, ENST00000673890.1, ENST00000673928.1, ENST00000673936.1, ENST00000673978.1, ENST00000674018.1, ENST00000674052.1, ENST00000674093.1, ENST00000674119.1, ENST00000674139.1, ENST00000674146.1, ENST00000674149.1 )
CAPN3 p.Arg769Gln (p.R769Q) ( ENST00000318023.11, ENST00000337571.9, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8, ENST00000397204.9, ENST00000561817.5, ENST00000569136.6, ENST00000673692.1, ENST00000673743.1, ENST00000673750.1, ENST00000673771.1, ENST00000673851.1, ENST00000673886.1, ENST00000673890.1, ENST00000673928.1, ENST00000673936.1, ENST00000673978.1, ENST00000674018.1, ENST00000674052.1, ENST00000674093.1, ENST00000674119.1, ENST00000674139.1, ENST00000674146.1, ENST00000674149.1 )
CAPN3 p.Asp780His (p.D780H) ( ENST00000318023.11, ENST00000337571.9, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8, ENST00000397204.9, ENST00000561817.5, ENST00000569136.6, ENST00000673692.1, ENST00000673743.1, ENST00000673750.1, ENST00000673771.1, ENST00000673851.1, ENST00000673886.1, ENST00000673890.1, ENST00000673928.1, ENST00000673936.1, ENST00000673978.1, ENST00000674018.1, ENST00000674052.1, ENST00000674093.1, ENST00000674119.1, ENST00000674139.1, ENST00000674146.1, ENST00000674149.1 )
CAPN3 p.Ala798Glu (p.A798E) ( ENST00000318023.11, ENST00000337571.9, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8, ENST00000397204.9, ENST00000561817.5, ENST00000569136.6, ENST00000673692.1, ENST00000673743.1, ENST00000673750.1, ENST00000673771.1, ENST00000673851.1, ENST00000673886.1, ENST00000673890.1, ENST00000673928.1, ENST00000673936.1, ENST00000673978.1, ENST00000674018.1, ENST00000674052.1, ENST00000674093.1, ENST00000674119.1, ENST00000674139.1, ENST00000674146.1, ENST00000674149.1 )
CAPN3 p.Tyr75LeufsTer5 (p.Y75Lfs*5)
CAPN3 p.Arg110ProfsTer18 (p.R110Pfs*18)
CAPN3 p.Arg289LeufsTer11 (p.R289Lfs*11)
CAPN3 p.Thr599AsnfsTer33 (p.T599Nfs*33)
CAPN3 p.Asn752ValfsTer14 (p.N752Vfs*14)
CAPN3 p.Arg788SerfsTer96 (p.R788Sfs*96)
CAPN3 p.Val787_Arg788insSerSer (p.V787_R788insSS)
CAPN3 p.Leu789GlyfsTer95 (p.L789Gfs*95)
CAPN3 p.Tyr75LeufsTer5 (p.Y75Lfs*5)
CAPN3 p.Arg110ProfsTer18 (p.R110Pfs*18)
CAPN3 p.Arg289LeufsTer11 (p.R289Lfs*11)
CAPN3 p.Thr599AsnfsTer33 (p.T599Nfs*33)
CAPN3 p.Asn752ValfsTer14 (p.N752Vfs*14)
CAPN3 p.Arg788SerfsTer96 (p.R788Sfs*96)
CAPN3 p.Val787_Arg788insSerSer (p.V787_R788insSS)
CAPN3 p.Leu789GlyfsTer95 (p.L789Gfs*95) - Associated Disease
- Limb-girdle muscular dystrophy type 2A
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.573300651731935
- Year of publication
- NA
Drugs