chr15:42703124:G>A Detail (hg19) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,703,124-42,703,124
hg38 chr15:42,410,926-42,410,926 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_173089.1:c.311G>A NP_775112.1:p.Arg104Gln
NM_024344.1:c.2288G>A NP_077320.1:p.Arg763Gln
NM_000070.2:c.2306G>A NP_000061.1:p.Arg769Gln
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic muscular dystrophy, limb-girdle, autosomal recessive germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-29 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy type 2A germline unknown Detail
Pathogenic 2022-12-08 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-07-10 criteria provided, single submitter germline Detail
Pathogenic 2023-09-11 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
0.573 Limb-girdle muscular dystrophy type 2A A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-... BeFree 14645990 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) AND Autosomal recessive limb-girdle muscular dystrophy ty... ClinVar Detail
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) AND not provided ClinVar Detail
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) AND Abnormality of the musculature ClinVar Detail
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) AND Muscular dystrophy, limb-girdle, autosomal dominant 4 ClinVar Detail
NA DisGeNET Detail
A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed ... 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
rs80338802 dbSNP
Genome
hg19
Position
chr15:42,703,124-42,703,124
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121406
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.9420951188573874E-5
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