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Details for NR5A1:c.1052C>T, p.Aal351Val

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
127253446	124491167

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1052C>T

PROTEIN CHANGE

p.Aal351Val

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
4.238e-05	0.0	2.966e-05	0.0	0.0	0.0	8.563e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.471808	Disease causing

DBSNP ID

1 combination linked to NR5A1:c.1052C>T, p.Aal351Val

1 disease linked to NR5A1:c.1052C>T, p.Aal351Val

Syndrome with 46,XY disorder of sex development

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