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Details for SLIT2:c.4488G>T, p.Arg1496Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
20620530	20618907

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.4488G>T

PROTEIN CHANGE

p.Arg1496Ser

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
1.592e-05	0.0	0.0	0.0	0.0002181	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.427808	Polymorphism

DBSNP ID

1 combination linked to SLIT2:c.4488G>T, p.Arg1496Ser

1 disease linked to SLIT2:c.4488G>T, p.Arg1496Ser

Normosmic congenital hypogonadotropic hypogonadism

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