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Details for KL:c.860G>A, p.Arg287His

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
33627944	33053807

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.860G>A

PROTEIN CHANGE

p.Arg287His

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
2.785e-05	0.0	0.0	0.0	5.437e-05	0.0	5.279e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.228274	Disease causing

DBSNP ID

1 combination linked to KL:c.860G>A, p.Arg287His

1 disease linked to KL:c.860G>A, p.Arg287His

Kallmann syndrome

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