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Details for SLC29A3:c.1088G>A, p.Arg363Gln

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73122025	71362268

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1088G>A

PROTEIN CHANGE

p.Arg363Gln

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
7.954e-06	0.0	2.891e-05	0.0	0.0	0.0	8.794e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.862283	None

DBSNP ID

1 combination linked to SLC29A3:c.1088G>A, p.Arg363Gln

1 disease linked to SLC29A3:c.1088G>A, p.Arg363Gln

Syndrome with 46,XY disorder of sex development

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