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Details for SEMA3E:c.781G>A, p.Ala261Thr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83036445	83407129

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.781G>A

PROTEIN CHANGE

p.Ala261Thr

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
3.191e-05	0.0	2.9e-05	0.0	5.441e-05	0.0	5.295e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.628239	Polymorphism

DBSNP ID

1 combination linked to SEMA3E:c.781G>A, p.Ala261Thr

1 disease linked to SEMA3E:c.781G>A, p.Ala261Thr

Normosmic congenital hypogonadotropic hypogonadism

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