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Details for NR5A1:c.288_304del, p.Met98GlyfsTer45

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
127262934	124500655

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TCCCGCTTGTACATCGGC

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.288_304del

PROTEIN CHANGE

p.Met98GlyfsTer45

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	4.414521	Disease causing

DBSNP ID

1 combination linked to NR5A1:c.288_304del, p.Met98GlyfsTer45

1 disease linked to NR5A1:c.288_304del, p.Met98GlyfsTer45

46,XY disorder of sex development

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