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.1627G>A, p.Val543Ile

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
8503847	8535806

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1627G>A

PROTEIN CHANGE

p.Val543Ile

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
0.001638	0.0	0.0	0.03363	0.0	0.0	0.0004194	0.003098	0.0

ESP
AA	EA
0.0	0.002676

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.423979	Polymorphism

DBSNP ID

1 combination linked to ANOS1:c.1627G>A, p.Val543Ile

1 disease linked to ANOS1:c.1627G>A, p.Val543Ile

Kallmann syndrome

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