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Details for PROP1:c.425C>T, p.Ala142Val

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
177419966	177992965

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.425C>T

PROTEIN CHANGE

p.Ala142Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002043	0.0005547	0.000781	0.006255	0.0	0.00125	0.00311	0.003428	0.0004249

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.038223	Polymorphism

DBSNP ID

2 combinations linked to PROP1:c.425C>T, p.Ala142Val

OLI1385; OLI1386

1 disease linked to PROP1:c.425C>T, p.Ala142Val

Hypogonadotropic hypogonadism with partial puberty phenotype

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