chr12:32949198:AATGAT>C 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	chr12:32,949,198-32,949,203
hg38	chr12:32,796,264-32,796,269 View the variant detail on this assembly version.

HGVS

PKP2

Type	Transcript	Protein
RefSeq	NM_004572.3:c.2329_2334delinsG	NP_004563.2:p.Ile777AlafsTer2
	NM_001005242.2:c.2197_2202delinsG	NP_001005242.2:p.Ile733AlafsTer2
Ensemble	ENST00000070846.11:c.2329_2334delinsG	ENST00000070846.11:p.Ile777AlafsTer2
	ENST00000549461.3:c.340_345delinsG	ENST00000549461.3:p.Ile114AlafsTer2
	ENST00000700558.2:c.340_345delinsG	ENST00000700558.2:p.Ile114AlafsTer2
	ENST00000700559.2:c.2168-3538_2168-3533delinsG
	ENST00000340811.9:c.2197_2202delinsG	ENST00000340811.9:p.Ile733AlafsTer2

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
0.360	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	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: rs786204394 dbSNP
Genome: hg19
Position: chr12:32,949,198-32,949,203
Variant Type: snv
Reference Allele: AATGAT
Alternative Allele: C

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