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Details for KL:c.560C>T, p.Pro187Leu

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
33591138	33017000

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.560C>T

PROTEIN CHANGE

p.Pro187Leu

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
4.429e-05	0.0	0.0	0.0	0.0	0.0	0.0001023	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.139973	Disease causing

DBSNP ID

1 combination linked to KL:c.560C>T, p.Pro187Leu

1 disease linked to KL:c.560C>T, p.Pro187Leu

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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