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Details for FANCD2:c.2965C>G, p.Pro989Ala

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
10119870	10078186

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2965C>G

PROTEIN CHANGE

p.Pro989Ala

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
0.000163	6.152e-05	0.0002313	0.0	0.0	0.0	0.0001494	0.0001629	0.0004573

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.789603	Polymorphism

DBSNP ID

2 combinations linked to FANCD2:c.2965C>G, p.Pro989Ala

OLI1514; OLI1527

1 disease linked to FANCD2:c.2965C>G, p.Pro989Ala

46,XY disorder of sex development

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