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Details for PROP1:c.302G>T, p.Ser101Ile

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
177421147	177994146

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.302G>T

PROTEIN CHANGE

p.Ser101Ile

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	Benign	1.809705	Polymorphism

DBSNP ID

1 combination linked to PROP1:c.302G>T, p.Ser101Ile

1 disease linked to PROP1:c.302G>T, p.Ser101Ile

46,XY disorder of sex development

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