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Details for IGF1:c.476G>A, p.Gly159Glu

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
102811708	102417930

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.476G>A

PROTEIN CHANGE

p.Gly159Glu

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.215691	Polymorphism

DBSNP ID

3 combinations linked to IGF1:c.476G>A, p.Gly159Glu

OLI871; OLI879; OLI880

1 disease linked to IGF1:c.476G>A, p.Gly159Glu

Kallmann syndrome

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