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Details for SLC29A3:c.707C>T, p.Thr236Met

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73115934	71356177

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.707C>T

PROTEIN CHANGE

p.Thr236Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.003	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000342	0.0005536	0.0001735	9.921e-05	0.0001087	0.0003698	0.0002549	0.0001629	0.0009799

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.457547	None

DBSNP ID

2 combinations linked to SLC29A3:c.707C>T, p.Thr236Met

OLI1563; OLI1573

1 disease linked to SLC29A3:c.707C>T, p.Thr236Met

Syndrome with 46,XY disorder of sex development

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