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Details for SLC29A3:c.1001A>G, p.Asn334Ser

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73121938	71362181

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1001A>G

PROTEIN CHANGE

p.Asn334Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0038	0.0029	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0006009	0.007261	0.0004915	0.0	0.0	9.239e-05	9.684e-05	0.0001631	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.523425	None

DBSNP ID

1 combination linked to SLC29A3:c.1001A>G, p.Asn334Ser

1 disease linked to SLC29A3:c.1001A>G, p.Asn334Ser

Syndrome with 46,XY disorder of sex development

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