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Details for PROP1:c.150del, p.Arg53AspfsTer112

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
177421298	177994297

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CT

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.150del

PROTEIN CHANGE

p.Arg53AspfsTer112

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
8.634e-05	0.0	0.0	0.0	0.0	0.0	0.0001938	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.900844	Disease causing

DBSNP ID

1 combination linked to PROP1:c.150del, p.Arg53AspfsTer112

1 disease linked to PROP1:c.150del, p.Arg53AspfsTer112

Disorder of sex development

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