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Details for AMH:c.974A>G, p.Gln325Arg

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
2251247	2251248

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.974A>G

PROTEIN CHANGE

p.Gln325Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0048	0.0129	0.0014	0.0	0.001	0.0051

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004675	0.01324	0.002264	0.04015	0.0	0.0	0.002042	0.00741	0.00121

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.528515	Polymorphism

DBSNP ID

1 combination linked to AMH:c.974A>G, p.Gln325Arg

1 disease linked to AMH:c.974A>G, p.Gln325Arg

Mayer-Rokitansky-Küster-Hauser syndrome

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