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Details for AXL:c.2570C>T, p.Ala857Val

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
41765694	41259789

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2570C>T

PROTEIN CHANGE

p.Ala857Val

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
6.771e-05	0.0	2.894e-05	0.0	5.437e-05	0.0	0.0001322	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.240495	Polymorphism

DBSNP ID

1 combination linked to AXL:c.2570C>T, p.Ala857Val

1 disease linked to AXL:c.2570C>T, p.Ala857Val

Hypogonadotropic hypogonadism with absent puberty phenotype

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