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Details for HSD3B2:c.707T>C, p.Leu236Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
119964831	119422208

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.707T>C

PROTEIN CHANGE

p.Leu236Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0124	0.0439	0.0058	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003038	0.04187	0.001128	0.0006951	0.0	0.0	0.0002908	0.001473	9.799e-05

ESP
AA	EA
0.04244	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.986069	Polymorphism

DBSNP ID

1 combination linked to HSD3B2:c.707T>C, p.Leu236Ser

1 disease linked to HSD3B2:c.707T>C, p.Leu236Ser

Disorder of sex development

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