chr15:42680032:T> Detail (hg19) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,680,032-42,680,032
hg38 chr15:42,387,834-42,387,834 

HGVS

Type Transcript Protein
RefSeq NM_173087.1:c.580delT NP_775110.1:p.Ser194ProfsTer26
NM_024344.1:c.580delT NP_077320.1:p.Ser194ProfsTer26
NM_000070.2:c.580delT NP_000061.1:p.Ser194ProfsTer26
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 114240 OMIM
HGNC 1480 HGNC
Ensembl ENSG00000092529 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-09-10 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2A germline unknown Detail
Pathogenic 2013-10-04 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-06-07 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.573 Limb-girdle muscular dystrophy type 2A NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000070.3(CAPN3):c.580del (p.Ser194fs) AND Autosomal recessive limb-girdle muscular dystrophy type... ClinVar Detail
NM_000070.3(CAPN3):c.580del (p.Ser194fs) AND not provided ClinVar Detail
NM_000070.3(CAPN3):c.580del (p.Ser194fs) AND Muscular dystrophy, limb-girdle, autosomal dominant 4 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398123149 dbSNP
Genome
hg19
Position
chr15:42,680,032-42,680,032
Variant Type
snv
Reference Allele
T
Alternative Allele
-
Genome browser