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Details for SEMA3A:c.458A>G, p.Asn153Ser

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83689870	84060554

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.458A>G

PROTEIN CHANGE

p.Asn153Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.0	0.003	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002309	0.001067	0.001877	0.0004326	0.0	9.391e-05	0.00373	0.002246	0.001563

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.353746	Polymorphism

DBSNP ID

2 combinations linked to SEMA3A:c.458A>G, p.Asn153Ser

OLI1285; OLI1286

1 disease linked to SEMA3A:c.458A>G, p.Asn153Ser

Kallmann syndrome

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