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.1187C>T, p.Ser396Leu

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
8536293	8568252

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1187C>T

PROTEIN CHANGE

p.Ser396Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0005	0.0	0.0038	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002917	0.0	0.0003658	0.004029	7.254e-05	6.303e-05	8.655e-05	0.0004446	0.0001064

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.647021	Disease causing

DBSNP ID

2 combinations linked to ANOS1:c.1187C>T, p.Ser396Leu

OLI1509; OLI1544

1 disease linked to ANOS1:c.1187C>T, p.Ser396Leu

46,XY disorder of sex development

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