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Details for AXL:c.568C>T, p.Arg190Cys

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
41727943	41222038

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.568C>T

PROTEIN CHANGE

p.Arg190Cys

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
1.934e-05	0.0	0.0	0.0	0.0	0.0	4.304e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.60089	Polymorphism

DBSNP ID

1 combination linked to AXL:c.568C>T, p.Arg190Cys

1 disease linked to AXL:c.568C>T, p.Arg190Cys

Normosmic congenital hypogonadotropic hypogonadism

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