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Details for KL:c.499C>T, p.Arg167Cys

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
33591077	33016939

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.499C>T

PROTEIN CHANGE

p.Arg167Cys

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
3.039e-05	0.0	0.0	0.0	0.0	0.0	5.93e-05	0.0001739	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.205415	Polymorphism

DBSNP ID

1 combination linked to KL:c.499C>T, p.Arg167Cys

1 disease linked to KL:c.499C>T, p.Arg167Cys

Hypogonadotropic hypogonadism with absent puberty phenotype

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