chr15:42392649:C>T Detail (hg38) (CAPN3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr15:42,684,847-42,684,847 View the variant detail on this assembly version.
hg38	chr15:42,392,649-42,392,649

HGVS

CAPN3

Type	Transcript	Protein
RefSeq	NM_173087.1:c.812C>T	NP_775110.1:p.Pro271Leu
	NM_024344.1:c.956C>T	NP_077320.1:p.Pro319Leu
	NM_000070.2:c.956C>T	NP_000061.1:p.Pro319Leu
Ensemble	ENST00000318023.11:c.812C>T	ENST00000318023.11:p.Pro271Leu
	ENST00000349748.8:c.812C>T	ENST00000349748.8:p.Pro271Leu
	ENST00000357568.8:c.956C>T	ENST00000357568.8:p.Pro319Leu
	ENST00000397163.8:c.956C>T	ENST00000397163.8:p.Pro319Leu

Summary

MGeND

Clinical significance
Variant entry
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 Likely pathogenic
Review star
Show details

Links

CAPN3

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	tgv283090585	TogoVar
	COSMIC	COSM5760885	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-12-29	criteria provided, single submitter	autosomal recessive limb-girdle muscular dystrophy type 2A	germline unknown	Detail
Pathogenic Likely pathogenic	2021-04-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-10-07	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

Descrption	Source	Links
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) AND Autosomal recessive limb-girdle muscular dystrophy typ...	ClinVar	Detail
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) AND not provided	ClinVar	Detail
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) 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: rs121434547 dbSNP
Genome: hg38
Position: chr15:42,392,649-42,392,649
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8588
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): 119108
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.197870839909998E-5

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