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Details for KCNH2:c.2775dup, p.Pro926AlafsTer14

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150644883	150947795

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

GC

TRANSCRIPT

CDNA CHANGE

c.2775dup

PROTEIN CHANGE

p.Pro926AlafsTer14

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.833e-06	0.0	0.0	0.0	0.0	0.0	2.13e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.510743	Disease causing

DBSNP ID

1 combination linked to KCNH2:c.2775dup, p.Pro926AlafsTer14

1 disease linked to KCNH2:c.2775dup, p.Pro926AlafsTer14

Familial long QT syndrome

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