Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 p.Ser233del (p.S233del)
(
ENST00000551576.6,
ENST00000419526.6,
ENST00000388922.9,
ENST00000550683.5,
ENST00000713619.1,
ENST00000552678.2,
ENST00000547400.6 )
ACVRL1 p.Asp254del (p.D254del) ( ENST00000552678.2, ENST00000547400.6, ENST00000713619.1, ENST00000550683.5, ENST00000388922.9, ENST00000419526.6, ENST00000551576.6 )
ACVRL1 p.Ser233del (p.S233del) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Asp254del (p.D254del) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Gly48_Ala49delinsGluPro (p.G48_A49delinsEP) ( ENST00000552678.2, ENST00000547400.6, ENST00000713619.1, ENST00000419526.6, ENST00000388922.9, ENST00000550683.5, ENST00000551576.6 )
ACVRL1 p.Gly48_Ala49delinsGluPro (p.G48_A49delinsEP) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Trp50Cys (p.W50C) ( ENST00000713619.1, ENST00000552678.2, ENST00000547400.6, ENST00000551576.6, ENST00000388922.9, ENST00000550683.5, ENST00000419526.6 )
ACVRL1 p.Cys344Tyr (p.C344Y) ( ENST00000419526.6, ENST00000550683.5, ENST00000388922.9, ENST00000551576.6, ENST00000552678.2, ENST00000547400.6, ENST00000713619.1 )
ACVRL1 p.Arg374Trp (p.R374W) ( ENST00000388922.9, ENST00000550683.5, ENST00000419526.6, ENST00000713619.1, ENST00000552678.2, ENST00000547400.6, ENST00000551576.6 )
ACVRL1 p.Met376Arg (p.M376R) ( ENST00000551576.6, ENST00000388922.9, ENST00000550683.5, ENST00000419526.6, ENST00000713619.1, ENST00000552678.2, ENST00000547400.6 )
ACVRL1 p.Ile398Asn (p.I398N) ( ENST00000547400.6, ENST00000552678.2, ENST00000713619.1, ENST00000388922.9, ENST00000550683.5, ENST00000419526.6, ENST00000551576.6 )
ACVRL1 p.Arg411Trp (p.R411W) ( ENST00000547400.6, ENST00000552678.2, ENST00000713619.1, ENST00000388922.9, ENST00000550683.5, ENST00000419526.6, ENST00000551576.6 )
ACVRL1 p.Arg411Gln (p.R411Q) ( ENST00000551576.6, ENST00000388922.9, ENST00000550683.5, ENST00000419526.6, ENST00000713619.1, ENST00000547400.6, ENST00000552678.2 )
ACVRL1 p.Arg411Pro (p.R411P) ( ENST00000551576.6, ENST00000388922.9, ENST00000550683.5, ENST00000419526.6, ENST00000713619.1, ENST00000552678.2, ENST00000547400.6 )
ACVRL1 p.Arg484Trp (p.R484W) ( ENST00000713619.1, ENST00000547400.6, ENST00000551576.6, ENST00000419526.6, ENST00000388922.9, ENST00000550683.5 )
ACVRL1 p.Trp50Cys (p.W50C) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Cys344Tyr (p.C344Y) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Arg374Trp (p.R374W) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Met376Arg (p.M376R) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Ile398Asn (p.I398N) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Arg411Trp (p.R411W) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Arg411Gln (p.R411Q) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Arg411Pro (p.R411P) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 )
ACVRL1 p.Arg484Trp (p.R484W) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000713619.1 ) - Associated Disease
- OSLER-RENDU-WEBER SYNDROME 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- NA
Drugs