chr15:42410610:CA> 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	chr15:42,702,808-42,702,809
hg38	chr15:42,410,610-42,410,611

HGVS

CAPN3

Type	Transcript	Protein
RefSeq	NM_173089.1:c.212_213delCA	NP_775112.1:p.Thr71ArgfsTer28
	NM_173087.1:c.1931_1932delCA	NP_775110.1:p.Thr644ArgfsTer28
	NM_024344.1:c.2189_2190delCA	NP_077320.1:p.Thr730ArgfsTer28
	NM_000070.2:c.2207_2208delCA	NP_000061.1:p.Thr736ArgfsTer28
	NM_173088.1:c.671_672delCA	NP_775111.1:p.Thr224ArgfsTer28
	NM_173090.1:c.212_213delCA	NP_775113.1:p.Thr71ArgfsTer28
Ensemble	ENST00000318023.11:c.2063_2064delCA	ENST00000318023.11:p.Thr688ArgfsTer28
	ENST00000337571.9:c.212_213delCA	ENST00000337571.9:p.Thr71ArgfsTer28
	ENST00000349748.8:c.1931_1932delCA	ENST00000349748.8:p.Thr644ArgfsTer28
	ENST00000357568.8:c.2189_2190delCA	ENST00000357568.8:p.Thr730ArgfsTer28
	ENST00000397163.8:c.2207_2208delCA	ENST00000397163.8:p.Thr736ArgfsTer28
	ENST00000397200.8:c.671_672delCA	ENST00000397200.8:p.Thr224ArgfsTer28
	ENST00000397204.9:c.212_213delCA	ENST00000397204.9:p.Thr71ArgfsTer28
	ENST00000561817.5:c.212_213delCA	ENST00000561817.5:p.Thr71ArgfsTer28
	ENST00000569136.6:c.212_213delCA	ENST00000569136.6:p.Thr71ArgfsTer28
	ENST00000673692.1:c.212_213delCA	ENST00000673692.1:p.Thr71ArgfsTer28
	ENST00000673743.1:c.110_111delCA	ENST00000673743.1:p.Thr37ArgfsTer28
	ENST00000673750.1:c.212_213delCA	ENST00000673750.1:p.Thr71ArgfsTer28
	ENST00000673771.1:c.212_213delCA	ENST00000673771.1:p.Thr71ArgfsTer28
	ENST00000673851.1:c.212_213delCA	ENST00000673851.1:p.Thr71ArgfsTer28
	ENST00000673886.1:c.212_213delCA	ENST00000673886.1:p.Thr71ArgfsTer28
	ENST00000673890.1:c.212_213delCA	ENST00000673890.1:p.Thr71ArgfsTer28
	ENST00000673928.1:c.212_213delCA	ENST00000673928.1:p.Thr71ArgfsTer28
	ENST00000673936.1:c.212_213delCA	ENST00000673936.1:p.Thr71ArgfsTer28
	ENST00000673978.1:c.350_351delCA	ENST00000673978.1:p.Thr117ArgfsTer28
	ENST00000674018.1:c.212_213delCA	ENST00000674018.1:p.Thr71ArgfsTer28
	ENST00000674052.1:c.431_432delCA	ENST00000674052.1:p.Thr144ArgfsTer28
	ENST00000674093.1:c.212_213delCA	ENST00000674093.1:p.Thr71ArgfsTer28
	ENST00000674119.1:c.212_213delCA	ENST00000674119.1:p.Thr71ArgfsTer28
	ENST00000674139.1:c.212_213delCA	ENST00000674139.1:p.Thr71ArgfsTer28
	ENST00000674146.1:c.212_213delCA	ENST00000674146.1:p.Thr71ArgfsTer28
	ENST00000674149.1:c.212_213delCA	ENST00000674149.1:p.Thr71ArgfsTer28

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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

Annotation

Annotations

Descrption	Source	Links
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: rs587780289 dbSNP
Genome: hg38
Position: chr15:42,410,610-42,410,611
Variant Type: snv
Reference Allele: CA
Alternative Allele: -

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