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Details for FANCA:c.1340C>T, p.Ser447Leu

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
89857830	89791422

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1340C>T

PROTEIN CHANGE

p.Ser447Leu

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
0.0003789	0.0	0.0	0.0	0.0	0.0008353	0.0006443	0.0006538	0.0

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.084081	Disease causing

DBSNP ID

1 combination linked to FANCA:c.1340C>T, p.Ser447Leu

1 disease linked to FANCA:c.1340C>T, p.Ser447Leu

Primary ovarian failure

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