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Details for VDR:c.176C>T, p.Thr59Ile

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
48258931	47865148

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.176C>T

PROTEIN CHANGE

p.Thr59Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0023	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002071	0.002708	0.0001445	0.0	0.0	0.0	8.799e-06	0.0001631	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.507919	Disease causing

DBSNP ID

1 combination linked to VDR:c.176C>T, p.Thr59Ile

1 disease linked to VDR:c.176C>T, p.Thr59Ile

46,XY disorder of sex development

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