chr15:42676742:G>C Detail (hg19) (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	chr15:42,676,742-42,676,742
hg38	chr15:42,384,544-42,384,544 View the variant detail on this assembly version.

HGVS

CAPN3

Type	Transcript	Protein
RefSeq	NM_173087.1:c.371G>C	NP_775110.1:p.Gly124Ala
	NM_024344.1:c.371G>C	NP_077320.1:p.Gly124Ala
	NM_000070.2:c.371G>C	NP_000061.1:p.Gly124Ala
Ensemble	ENST00000349748.8:c.371G>C	ENST00000349748.8:p.Gly124Ala
	ENST00000357568.8:c.371G>C	ENST00000357568.8:p.Gly124Ala
	ENST00000318023.11:c.371G>C	ENST00000318023.11:p.Gly124Ala
	ENST00000397163.8:c.371G>C	ENST00000397163.8:p.Gly124Ala

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-12-27	criteria provided, conflicting interpretations	autosomal recessive limb-girdle muscular dystrophy type 2A	germline	Detail
Uncertain significance	2022-05-23	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Uncertain significance	2022-02-10	criteria provided, single submitter	Inborn genetic diseases	germline	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.371G>C (p.Gly124Ala) AND Autosomal recessive limb-girdle muscular dystrophy typ...	ClinVar	Detail
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) AND not provided	ClinVar	Detail
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) AND Inborn genetic diseases	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: rs587780291 dbSNP
Genome: hg19
Position: chr15:42,676,742-42,676,742
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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