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Details for SEMA3A:c.2200C>T, p.Arg734Trp

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83590803	83961487

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2200C>T

PROTEIN CHANGE

p.Arg734Trp

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
1.99e-05	0.0	2.893e-05	0.0	0.0001632	0.0	8.806e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.838888	Disease causing

DBSNP ID

1 combination linked to SEMA3A:c.2200C>T, p.Arg734Trp

1 disease linked to SEMA3A:c.2200C>T, p.Arg734Trp

Normosmic congenital hypogonadotropic hypogonadism

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