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Details for GJB2:c.231G>A, p.Trp77Ter

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
20763490	20189351

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.231G>A

PROTEIN CHANGE

p.Trp77Ter

ALLELE FREQUENCY

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

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001392	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.001143

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.619055	Disease causing

DBSNP ID

4 combinations linked to GJB2:c.231G>A, p.Trp77Ter

OLI1100; OLI1101; OLI1103; OLI1104

1 disease linked to GJB2:c.231G>A, p.Trp77Ter

Rare genetic deafness

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