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Details for RXFP2:c.184G>A, p.Ala62Thr

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
32332484	31758347

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.184G>A

PROTEIN CHANGE

p.Ala62Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0072	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003859	0.0002461	0.0007516	0.0	0.0	4.619e-05	0.0004839	0.001794	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.378947	Polymorphism

DBSNP ID

3 combinations linked to RXFP2:c.184G>A, p.Ala62Thr

OLI1547; OLI1548; OLI1578

2 diseases linked to RXFP2:c.184G>A, p.Ala62Thr

46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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