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Details for SEMA4D:c.2363G>C, p.Ser788Thr

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
91993845	89378930

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2363G>C

PROTEIN CHANGE

p.Ser788Thr

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
3.978e-06	0.0	0.0	0.0	5.437e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.866307	Polymorphism

DBSNP ID

1 combination linked to SEMA4D:c.2363G>C, p.Ser788Thr

1 disease linked to SEMA4D:c.2363G>C, p.Ser788Thr

Kallmann syndrome

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