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Details for AMH:c.1556C>T, p.Ala519Val

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
2251829	2251830

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1556C>T

PROTEIN CHANGE

p.Ala519Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0014	0.0	0.004	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001591	0.000152	0.002355	0.0002132	0.0	0.0005606	0.002521	0.001802	0.0001356

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.743517	Polymorphism

DBSNP ID

1 combination linked to AMH:c.1556C>T, p.Ala519Val

1 disease linked to AMH:c.1556C>T, p.Ala519Val

Syndrome with 46,XY disorder of sex development

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