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Details for GJB2:c.109G>A, p.Val37Ile

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
20763612	20189473

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.109G>A

PROTEIN CHANGE

p.Val37Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0154	0.0008	0.0029	0.0734	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00772	0.0008612	0.002632	0.008058	0.08274	0.001803	0.001326	0.004407	0.0003924

ESP
AA	EA
0.000227	0.00186

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.465987	Disease causing

DBSNP ID

3 combinations linked to GJB2:c.109G>A, p.Val37Ile

OLI1315; OLI136; OLI137

3 diseases linked to GJB2:c.109G>A, p.Val37Ile

Waardenburg syndrome; Rare genetic deafness; Non-syndromic genetic deafness

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