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Details for KCNQ4:c.1672G>A, p.Val558Met

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
41300697	40835025

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1672G>A

PROTEIN CHANGE

p.Val558Met

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
1.193e-05	0.0	0.0	0.0	0.0	0.0	2.638e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.048325	Disease causing

DBSNP ID

2 combinations linked to KCNQ4:c.1672G>A, p.Val558Met

OLI1100; OLI1101

1 disease linked to KCNQ4:c.1672G>A, p.Val558Met

Rare genetic deafness

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