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Details for AXL:c.1939A>G, p.Ile647Val

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
41759543	41253638

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1939A>G

PROTEIN CHANGE

p.Ile647Val

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
1.991e-05	0.0	0.0	0.0	0.0001088	0.0	0.0	0.0	9.819e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.604844	Disease causing

DBSNP ID

1 combination linked to AXL:c.1939A>G, p.Ile647Val

1 disease linked to AXL:c.1939A>G, p.Ile647Val

Normosmic congenital hypogonadotropic hypogonadism

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