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Details for GJB3:c.250G>A, p.Val84Ile

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
35250613	34785012

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.250G>A

PROTEIN CHANGE

p.Val84Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0	0.005	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003899	0.0	0.0001156	0.0	0.004567	0.0	8.796e-06	0.0003259	0.0002287

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.235808	Disease causing

DBSNP ID

2 combinations linked to GJB3:c.250G>A, p.Val84Ile

1 disease linked to GJB3:c.250G>A, p.Val84Ile

Non-syndromic genetic deafness

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