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Details for DMRT1:c.149G>C, p.Ser50Thr

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
841987	841987

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.149G>C

PROTEIN CHANGE

p.Ser50Thr

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
5.834e-06	0.0	0.0	0.0	0.0	0.0	1.458e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.699044	Polymorphism

DBSNP ID

1 combination linked to DMRT1:c.149G>C, p.Ser50Thr

1 disease linked to DMRT1:c.149G>C, p.Ser50Thr

46,XY disorder of sex development

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