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Details for POR:c.976T>C, p.Tyr326His

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
75613084	75983766

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.976T>C

PROTEIN CHANGE

p.Tyr326His

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
3.642e-05	0.0	0.0001745	0.0	0.0	0.0	1.794e-05	0.0001664	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.474762	Polymorphism

DBSNP ID

1 combination linked to POR:c.976T>C, p.Tyr326His

1 disease linked to POR:c.976T>C, p.Tyr326His

46,XY disorder of sex development

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