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Details for SEMA7A:c.1863C>G, p.Phe621Leu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
74703103	74410762

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1863C>G

PROTEIN CHANGE

p.Phe621Leu

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.916175	Polymorphism

DBSNP ID

1 combination linked to SEMA7A:c.1863C>G, p.Phe621Leu

1 disease linked to SEMA7A:c.1863C>G, p.Phe621Leu

Hypogonadotropic hypogonadism with absent puberty phenotype

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