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Details for AMH:c.991T>C, p.Ser331Pro

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
2251264	2251265

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.991T>C

PROTEIN CHANGE

p.Ser331Pro

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.82e-05	0.0005889	9.491e-05	0.0002782	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.198221	Polymorphism

DBSNP ID

1 combination linked to AMH:c.991T>C, p.Ser331Pro

1 disease linked to AMH:c.991T>C, p.Ser331Pro

Syndrome with 46,XY disorder of sex development

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