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Details for NR5A1:c.904T>C, p.Trp302Arg

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
127255395	124493116

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.904T>C

PROTEIN CHANGE

p.Trp302Arg

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.052117	Disease causing

DBSNP ID

1 combination linked to NR5A1:c.904T>C, p.Trp302Arg

1 disease linked to NR5A1:c.904T>C, p.Trp302Arg

Syndrome with 46,XY disorder of sex development

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