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 ANOS1:c.571C>T, p.Arg191Ter

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
8555990	8587949

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.571C>T

PROTEIN CHANGE

p.Arg191Ter

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
None	None	5.880848	Disease causing

DBSNP ID

2 combinations linked to ANOS1:c.571C>T, p.Arg191Ter

OLI1398; OLI395

2 diseases linked to ANOS1:c.571C>T, p.Arg191Ter

Hypogonadotropic hypogonadism with absent puberty phenotype; Kallmann syndrome

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