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Details for NR5A1:c.1223A>C, p.His408Pro

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
127245200	124482921

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1223A>C

PROTEIN CHANGE

p.His408Pro

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
Tolerated	Possibly Damaging	3.092832	None

DBSNP ID

1 combination linked to NR5A1:c.1223A>C, p.His408Pro

1 disease linked to NR5A1:c.1223A>C, p.His408Pro

46,XY disorder of sex development

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