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Details for ATM:c.418G>C, p.Asp140His

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
108106483	108235756

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.418G>C

PROTEIN CHANGE

p.Asp140His

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
3.979e-06	0.0	0.0	0.0	0.0	0.0	8.798e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.504186	Polymorphism

DBSNP ID

1 combination linked to ATM:c.418G>C, p.Asp140His

1 disease linked to ATM:c.418G>C, p.Asp140His

Primary ovarian failure

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