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Details for SEMA3A:c.1457C>T, p.Pro486Leu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83614789	83985473

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1457C>T

PROTEIN CHANGE

p.Pro486Leu

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
6.07e-05	6.19e-05	0.0	0.0001008	0.0	0.0	2.683e-05	0.0	0.0003324

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.574161	Disease causing

DBSNP ID

1 combination linked to SEMA3A:c.1457C>T, p.Pro486Leu

1 disease linked to SEMA3A:c.1457C>T, p.Pro486Leu

Kallmann syndrome

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