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Details for GJA4:c.727C>T, p.Arg243Trp

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
35260541	34794940

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.727C>T

PROTEIN CHANGE

p.Arg243Trp

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
9.957e-05	6.156e-05	0.0	0.0	0.001251	0.0	0.0	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.487996	Polymorphism

DBSNP ID

2 combinations linked to GJA4:c.727C>T, p.Arg243Trp

OLI1002; OLI996

2 diseases linked to GJA4:c.727C>T, p.Arg243Trp

Androgen insensitivity syndrome; 46,XY disorder of sex development

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