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Details for AMH:c.1666G>A, p.Glu556Lys

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
2251939	2251940

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1666G>A

PROTEIN CHANGE

p.Glu556Lys

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
1.348e-05	0.0	0.0	0.0	0.0	0.0	3.317e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.946194	Polymorphism

DBSNP ID

1 combination linked to AMH:c.1666G>A, p.Glu556Lys

1 disease linked to AMH:c.1666G>A, p.Glu556Lys

Hypogonadotropic hypogonadism with absent puberty phenotype

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