chr12:32949042:C>G Detail (hg19) (PKP2)

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

Genome

Assembly	Position
hg19	chr12:32,949,042-32,949,042
hg38	chr12:32,796,108-32,796,108 View the variant detail on this assembly version.

HGVS

PKP2

Type	Transcript	Protein
RefSeq	NM_001005242.2:c.2357+1G>C
	NM_004572.3:c.2489+1G>C
Ensemble	ENST00000340811.9:c.2357+1G>C
	ENST00000070846.11:c.2489+1G>C
	ENST00000549461.3:c.500+1G>C
	ENST00000700559.2:c.2168-3377G>C
	ENST00000700558.2:c.500+1G>C

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

PKP2

Type	Database	ID	Link
Gene	MIM	602861	OMIM
	HGNC	9024	HGNC
	Ensembl	ENSG00000057294	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
0.163	Arrhythmogenic Right Ventricular Dysplasia	NA	CLINVAR		Detail
0.360	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs111517471 dbSNP
Genome: hg19
Position: chr12:32,949,042-32,949,042
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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