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Details for SEMA3A:c.196C>T, p.Arg66Trp

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83764184	84134868

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.196C>T

PROTEIN CHANGE

p.Arg66Trp

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
0.0005255	0.0001845	2.894e-05	0.0	0.0001088	0.0	0.0008188	0.0006532	0.0009478

ESP
AA	EA
0.0	0.0004651

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.217339	Polymorphism

DBSNP ID

3 combinations linked to SEMA3A:c.196C>T, p.Arg66Trp

OLI1111; OLI1591; OLI863

2 diseases linked to SEMA3A:c.196C>T, p.Arg66Trp

CHARGE syndrome; Kallmann syndrome

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