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Details for SAMD11:c.628C>T, p.Arg210Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
874762	939382

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.628C>T

PROTEIN CHANGE

p.Arg210Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0	0.0	0.0069	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000571	0.0	0.0001162	0.001904	0.003988	0.000188	0.0002494	0.0006579	0.0003278

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.596675	Polymorphism

DBSNP ID

1 combination linked to SAMD11:c.628C>T, p.Arg210Cys

1 disease linked to SAMD11:c.628C>T, p.Arg210Cys

Primary ovarian failure

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