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Details for SEMA7A:c.114G>T, p.Trp38Cys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
74726146	74433805

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.114G>T

PROTEIN CHANGE

p.Trp38Cys

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	Unknown	2.055351	Polymorphism

DBSNP ID

1 combination linked to SEMA7A:c.114G>T, p.Trp38Cys

1 disease linked to SEMA7A:c.114G>T, p.Trp38Cys

Normosmic congenital hypogonadotropic hypogonadism

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