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Details for AMH:c.136C>G, p.Pro46Ala

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
2249467	2249468

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.136C>G

PROTEIN CHANGE

p.Pro46Ala

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
0.0001057	6.77e-05	0.0	0.0	0.0	0.0	0.0002162	0.0001721	0.0

ESP
AA	EA
0.0	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.899021	Polymorphism

DBSNP ID

1 combination linked to AMH:c.136C>G, p.Pro46Ala

1 disease linked to AMH:c.136C>G, p.Pro46Ala

Hypogonadotropic hypogonadism with partial puberty phenotype

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