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 CRTAP:c.514C>G, p.Leu172Val

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
33161878	33120386

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.514C>G

PROTEIN CHANGE

p.Leu172Val

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
2.008e-05	0.0003076	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
0.0006809	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.623504	Polymorphism

DBSNP ID

1 combination linked to CRTAP:c.514C>G, p.Leu172Val

1 disease linked to CRTAP:c.514C>G, p.Leu172Val

Mayer-Rokitansky-Küster-Hauser syndrome

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