This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for RXFP2:c.562C>A, p.Gln188Lys

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
32348821	31774684

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.562C>A

PROTEIN CHANGE

p.Gln188Lys

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
1.196e-05	0.0	2.897e-05	0.0	0.0	0.0	0.0	0.0003273	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.213172	Polymorphism

DBSNP ID

1 combination linked to RXFP2:c.562C>A, p.Gln188Lys

1 disease linked to RXFP2:c.562C>A, p.Gln188Lys

Syndrome with 46,XY disorder of sex development

Found any issues with the data on this page? Report this entry.