chr15:42359950:C>T Detail (hg38) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,652,148-42,652,148 View the variant detail on this assembly version.
hg38 chr15:42,359,950-42,359,950

HGVS

Type Transcript Protein
RefSeq NM_173087.1:c.145C>T NP_775110.1:p.Arg49Cys
NM_024344.1:c.145C>T NP_077320.1:p.Arg49Cys
NM_000070.2:c.145C>T NP_000061.1:p.Arg49Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 tgv52708576 TogoVar
COSMIC COSM1645739 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-12-06 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2A germline unknown Detail
Pathogenic Likely pathogenic 2020-03-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2023-01-06 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy germline Detail
Pathogenic 2023-08-02 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.145C>T (p.Arg49Cys) AND Autosomal recessive limb-girdle muscular dystrophy type... ClinVar Detail
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) AND not provided ClinVar Detail
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) AND Autosomal recessive limb-girdle muscular dystrophy ClinVar Detail
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) 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
rs794726871 dbSNP
Genome
hg38
Position
chr15:42,359,950-42,359,950
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs794726871
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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