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Details for SLIT2:c.2843G>A, p.Gly948Asp

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
20569002	20567379

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2843G>A

PROTEIN CHANGE

p.Gly948Asp

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.202002	Disease causing

DBSNP ID

1 combination linked to SLIT2:c.2843G>A, p.Gly948Asp

1 disease linked to SLIT2:c.2843G>A, p.Gly948Asp

Kallmann syndrome

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