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Details for GLI2:c.4464G>T, p.Lys1488Phe

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
121747954	120990378

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.4464G>T

PROTEIN CHANGE

p.Lys1488Phe

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
6.763e-05	0.0	0.0	0.0	0.0	0.0	0.0001496	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.387455	Polymorphism

DBSNP ID

1 combination linked to GLI2:c.4464G>T, p.Lys1488Phe

1 disease linked to GLI2:c.4464G>T, p.Lys1488Phe

Kallmann syndrome

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