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Details for AMH:c.236A>G, p.Tyr79Cys

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
2249567	2249568

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.236A>G

PROTEIN CHANGE

p.Tyr79Cys

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.543031	Polymorphism

DBSNP ID

1 combination linked to AMH:c.236A>G, p.Tyr79Cys

1 disease linked to AMH:c.236A>G, p.Tyr79Cys

Mayer-Rokitansky-Küster-Hauser syndrome

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