This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for GJA5:c.286G>T, p.Ala96Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
147231061	147758953

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.286G>T

PROTEIN CHANGE

p.Ala96Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001194	0.0	0.0	0.0	0.0	9.241e-05	0.0002467	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.612982	None

DBSNP ID

1 combination linked to GJA5:c.286G>T, p.Ala96Ser

1 disease linked to GJA5:c.286G>T, p.Ala96Ser

Torsade-de-pointes syndrome with short coupling interval

Found any issues with the data on this page? Report this entry.