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Details for PROK2:c.349C>T, p.Arg117Trp

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
71821916	71772765

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.349C>T

PROTEIN CHANGE

p.Arg117Trp

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
1.193e-05	0.0	0.0	0.0	0.0001087	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.774093	Polymorphism

DBSNP ID

1 combination linked to PROK2:c.349C>T, p.Arg117Trp

1 disease linked to PROK2:c.349C>T, p.Arg117Trp

Normosmic congenital hypogonadotropic hypogonadism

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