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Details for RXFP2:c.1904C>T, p.Ala635Val

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
32371455	31797318

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1904C>T

PROTEIN CHANGE

p.Ala635Val

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
Deleterious	Benign	3.114207	Polymorphism

DBSNP ID

1 combination linked to RXFP2:c.1904C>T, p.Ala635Val

1 disease linked to RXFP2:c.1904C>T, p.Ala635Val

46,XY disorder of sex development

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