chr15:42693953: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	chr15:42,693,953-42,693,953
hg38	chr15:42,401,755-42,401,755 View the variant detail on this assembly version.

HGVS

CAPN3

Type	Transcript	Protein
RefSeq	NM_000070.2:c.1469G>C	NP_000061.1:p.Arg490Pro
	NM_024344.1:c.1469G>C	NP_077320.1:p.Arg490Pro
	NM_173087.1:c.1325G>C	NP_775110.1:p.Arg442Pro
Ensemble	ENST00000397163.8:c.1469G>C	ENST00000397163.8:p.Arg490Pro
	ENST00000357568.8:c.1469G>C	ENST00000357568.8:p.Arg490Pro
	ENST00000318023.11:c.1325G>C	ENST00000318023.11:p.Arg442Pro
	ENST00000349748.8:c.1325G>C	ENST00000349748.8:p.Arg442Pro

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
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.573	Limb-girdle muscular dystrophy type 2A	NA	CLINVAR		Detail
<0.001	Muscular Dystrophy, Facioscapulohumeral	Using exome sequencing, we identified two known pathogenic mutations in CAPN3 (A...	BeFree	22378277	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
Using exome sequencing, we identified two known pathogenic mutations in CAPN3 (Arg490Gln and Thr184A...	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: -
Genome: hg19
Position: chr15:42,693,953-42,693,953
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8328
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): 117650
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.499787505312367E-6

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