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Details for ATM:c.7375C>T, p.Arg2459Cys

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
108201008	108330281

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.7375C>T

PROTEIN CHANGE

p.Arg2459Cys

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
3.582e-05	0.0	2.891e-05	0.0	0.0001089	0.0	3.522e-05	0.0003264	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.630282	Polymorphism

DBSNP ID

1 combination linked to ATM:c.7375C>T, p.Arg2459Cys

1 disease linked to ATM:c.7375C>T, p.Arg2459Cys

Primary ovarian failure

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