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Details for SEMA3A:c.1546C>T, p.Arg516Trp

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83610743	83981427

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1546C>T

PROTEIN CHANGE

p.Arg516Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
9.193e-05	0.0001856	5.806e-05	0.0	0.0	4.638e-05	9.734e-05	0.0001638	0.0001638

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.569568	Disease causing

DBSNP ID

1 combination linked to SEMA3A:c.1546C>T, p.Arg516Trp

1 disease linked to SEMA3A:c.1546C>T, p.Arg516Trp

Normosmic congenital hypogonadotropic hypogonadism

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