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Details for CCKBR:c.1247G>A, p.Arg416His

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
6292676	6271446

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1247G>A

PROTEIN CHANGE

p.Arg416His

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
3.198e-05	0.0	0.0	0.0	0.0003265	4.738e-05	8.836e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.423014	Polymorphism

DBSNP ID

1 combination linked to CCKBR:c.1247G>A, p.Arg416His

1 disease linked to CCKBR:c.1247G>A, p.Arg416His

Kallmann syndrome

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