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 AMH:c.295A>T, p.Thr99Ser

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
2249626	2249627

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.295A>T

PROTEIN CHANGE

p.Thr99Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000245	0.0	0.0003114	0.0	0.0	0.0	0.0004393	0.0002608	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.445671	Polymorphism

DBSNP ID

1 combination linked to AMH:c.295A>T, p.Thr99Ser

1 disease linked to AMH:c.295A>T, p.Thr99Ser

Hypogonadotropic hypogonadism with absent puberty phenotype

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