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Details for EGF:c.1501A>G, p.Thr501Ala

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
110885619	109964463

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1501A>G

PROTEIN CHANGE

p.Thr501Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001791	0.0	0.0	0.0	0.002338	0.0	0.0	0.0003264	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.293212	Polymorphism

DBSNP ID

1 combination linked to EGF:c.1501A>G, p.Thr501Ala

1 disease linked to EGF:c.1501A>G, p.Thr501Ala

Normosmic congenital hypogonadotropic hypogonadism

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