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 CCDC141:c.1802A>T, p.His601Leu

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179742788	178878061

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1802A>T

PROTEIN CHANGE

p.His601Leu

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
7.976e-05	0.0	0.0	0.0	0.0	0.000925	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-1.01474	Polymorphism

DBSNP ID

1 combination linked to CCDC141:c.1802A>T, p.His601Leu

1 disease linked to CCDC141:c.1802A>T, p.His601Leu

Hypogonadotropic hypogonadism with absent puberty phenotype

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