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Details for SEMA4D:c.1544C>T, p.Ala515Val

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
91996164	89381249

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1544C>T

PROTEIN CHANGE

p.Ala515Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002819	0.0	2.954e-05	0.0	0.003005	0.0	0.0001208	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.562734	Polymorphism

DBSNP ID

1 combination linked to SEMA4D:c.1544C>T, p.Ala515Val

1 disease linked to SEMA4D:c.1544C>T, p.Ala515Val

Kallmann syndrome

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