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Details for POR:c.357G>C, p.Glu119Gln

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
75608888	75979570

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.357G>C

PROTEIN CHANGE

p.Glu119Gln

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	1.484653	Disease causing

DBSNP ID

1 combination linked to POR:c.357G>C, p.Glu119Gln

2 diseases linked to POR:c.357G>C, p.Glu119Gln

Androgen insensitivity syndrome; 46,XY disorder of sex development

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