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Details for FANCD2:c.986C>G, p.Ala329Gly

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
10084831	10043147

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.986C>G

PROTEIN CHANGE

p.Ala329Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0015	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002229	0.003326	2.893e-05	0.0	0.0	0.0	0.0	0.0001633	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.549892	Polymorphism

DBSNP ID

1 combination linked to FANCD2:c.986C>G, p.Ala329Gly

1 disease linked to FANCD2:c.986C>G, p.Ala329Gly

46,XY disorder of sex development

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