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Details for SEMA3A:c.1306G>A, p.Val436Ile

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83634709	84005393

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1306G>A

PROTEIN CHANGE

p.Val436Ile

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
4.775e-05	6.152e-05	0.0	0.0	0.0002175	4.624e-05	3.52e-05	0.0	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.791077	Polymorphism

DBSNP ID

1 combination linked to SEMA3A:c.1306G>A, p.Val436Ile

1 disease linked to SEMA3A:c.1306G>A, p.Val436Ile

Kallmann syndrome

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