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Details for SEMA4D:c.338G>A, p.Arg113Gln

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
92011728	89396813

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.338G>A

PROTEIN CHANGE

p.Arg113Gln

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
8.009e-06	0.0	0.0	0.0	0.000109	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.899305	Disease causing

DBSNP ID

1 combination linked to SEMA4D:c.338G>A, p.Arg113Gln

1 disease linked to SEMA4D:c.338G>A, p.Arg113Gln

Kallmann syndrome

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