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Details for AMH:c.451C>T, p.Pro151Ser

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
2250374	2250375

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.451C>T

PROTEIN CHANGE

p.Pro151Ser

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
3.751e-05	0.0	3.195e-05	0.0001087	0.0	0.0	6.346e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001167

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.836647	Polymorphism

DBSNP ID

1 combination linked to AMH:c.451C>T, p.Pro151Ser

1 disease linked to AMH:c.451C>T, p.Pro151Ser

Mayer-Rokitansky-Küster-Hauser syndrome

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