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Details for SEMA3A:c.1432G>A, p.Glu478Lys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83631291	84001975

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1432G>A

PROTEIN CHANGE

p.Glu478Lys

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
3.992e-06	0.0	0.0	0.0	5.461e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.612535	Disease causing

DBSNP ID

1 combination linked to SEMA3A:c.1432G>A, p.Glu478Lys

1 disease linked to SEMA3A:c.1432G>A, p.Glu478Lys

Normosmic congenital hypogonadotropic hypogonadism

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