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Details for AXL:c.1549G>A, p.Gly517Ser

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
41754430	41248525

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1549G>A

PROTEIN CHANGE

p.Gly517Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0014	0.0	0.006	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004221	0.001292	0.001937	0.001489	0.0	0.001571	0.00717	0.003422	0.002874

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.179967	Polymorphism

DBSNP ID

1 combination linked to AXL:c.1549G>A, p.Gly517Ser

1 disease linked to AXL:c.1549G>A, p.Gly517Ser

Normosmic congenital hypogonadotropic hypogonadism

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