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Details for GJB2:c.487A>G, p.Met163Val

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
20763234	20189095

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.487A>G

PROTEIN CHANGE

p.Met163Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001433	0.0	2.892e-05	9.93e-05	0.0	0.0	8.811e-05	0.000163	0.0007515

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.407918	Disease causing

DBSNP ID

1 combination linked to GJB2:c.487A>G, p.Met163Val

1 disease linked to GJB2:c.487A>G, p.Met163Val

Non-syndromic genetic deafness

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