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Details for SLC29A3:c.971C>T, p.Pro324Leu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73121908	71362151

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.971C>T

PROTEIN CHANGE

p.Pro324Leu

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
3.183e-05	0.0	0.0	0.0	0.0004349	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.630258	None

DBSNP ID

1 combination linked to SLC29A3:c.971C>T, p.Pro324Leu

1 disease linked to SLC29A3:c.971C>T, p.Pro324Leu

46,XY disorder of sex development

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