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Details for SEMA7A:c.1801G>A, p.Glu601Lys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
74703165	74410824

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1801G>A

PROTEIN CHANGE

p.Glu601Lys

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	2.71389	Polymorphism

DBSNP ID

1 combination linked to SEMA7A:c.1801G>A, p.Glu601Lys

1 disease linked to SEMA7A:c.1801G>A, p.Glu601Lys

Normosmic congenital hypogonadotropic hypogonadism

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