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Details for PROKR2:c.151G>A, p.Ala51Thr

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5294865	5314219

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.151G>A

PROTEIN CHANGE

p.Ala51Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0068	0.0	0.0	0.0278	0.005	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004489	0.000123	0.0001445	0.0	0.01952	0.02097	0.002224	0.002932	0.001241

ESP
AA	EA
0.0	0.001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.263874	Polymorphism

DBSNP ID

1 combination linked to PROKR2:c.151G>A, p.Ala51Thr

1 disease linked to PROKR2:c.151G>A, p.Ala51Thr

Normosmic congenital hypogonadotropic hypogonadism

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