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Details for SLC29A3:c.325G>A, p.Val109Ile

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73103990	71344233

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.325G>A

PROTEIN CHANGE

p.Val109Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.001	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002426	0.0	0.0002602	0.0	0.0003262	0.0	0.0003428	0.0001629	0.000196

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.011531	None

DBSNP ID

1 combination linked to SLC29A3:c.325G>A, p.Val109Ile

1 disease linked to SLC29A3:c.325G>A, p.Val109Ile

46,XY disorder of sex development

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