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Details for PROP1:p.Arg112Gln

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
177421114	177994113

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg112Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002515	0.0	0.0001157	0.0	5.443e-05	0.0	0.0004952	0.0003266	0.0

ESP
AA	EA
0.000227	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.578144	Polymorphism

DBSNP ID

1 combination linked to PROP1:p.Arg112Gln

1 disease linked to PROP1:p.Arg112Gln

Congenital hypogonadotropic hypogonadism

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