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Details for EYA1:c.1276G>A, p.Gly426Ser

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
72129011	71216776

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1276G>A

PROTEIN CHANGE

p.Gly426Ser

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
0.0001433	0.0	0.0	0.0	0.001904	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.063311	Disease causing

DBSNP ID

1 combination linked to EYA1:c.1276G>A, p.Gly426Ser

1 disease linked to EYA1:c.1276G>A, p.Gly426Ser

Rare genetic deafness

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