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Details for AMH:c.1213G>C, p.Ala405Pro

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
2251486	2251487

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1213G>C

PROTEIN CHANGE

p.Ala405Pro

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
7.779e-05	0.0	0.0	0.0	0.0	0.0	0.0001901	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.634363	Disease causing

DBSNP ID

1 combination linked to AMH:c.1213G>C, p.Ala405Pro

1 disease linked to AMH:c.1213G>C, p.Ala405Pro

Hypogonadotropic hypogonadism with absent puberty phenotype

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