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Details for NR5A1:c.1183_1185delGAG, p.Glu395del

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
127245237	124482958

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TCTC

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1183_1185delGAG

PROTEIN CHANGE

p.Glu395del

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
None	None	2.382433	Disease causing

DBSNP ID

1 combination linked to NR5A1:c.1183_1185delGAG, p.Glu395del

1 disease linked to NR5A1:c.1183_1185delGAG, p.Glu395del

46,XY disorder of sex development

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