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Details for SLIT2:c.3076C>T, p.Pro1026Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
20570615	20568992

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3076C>T

PROTEIN CHANGE

p.Pro1026Ser

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
Tolerated	Benign	2.644152	Disease causing

DBSNP ID

1 combination linked to SLIT2:c.3076C>T, p.Pro1026Ser

1 disease linked to SLIT2:c.3076C>T, p.Pro1026Ser

Normosmic congenital hypogonadotropic hypogonadism

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