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Details for GADL1:c.1480C>T, p.Arg494Cys

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
30769820	30728328

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1480C>T

PROTEIN CHANGE

p.Arg494Cys

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
1.594e-05	0.0	0.0	0.0	0.0	0.0	3.529e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.526638	Polymorphism

DBSNP ID

1 combination linked to GADL1:c.1480C>T, p.Arg494Cys

1 disease linked to GADL1:c.1480C>T, p.Arg494Cys

Normosmic congenital hypogonadotropic hypogonadism

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