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Details for KCNH2:c.921_923del, p.307_308del

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150654583	150957495

VARIANT EFFECT

deletion

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CATG

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.921_923del

PROTEIN CHANGE

p.307_308del

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	None	Disease causing

DBSNP ID

1 combination linked to KCNH2:c.921_923del, p.307_308del

1 disease linked to KCNH2:c.921_923del, p.307_308del

Familial long QT syndrome

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