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Details for SEMA7A:c.1244G>A, p.Arg415His

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
74706938	74414597

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1244G>A

PROTEIN CHANGE

p.Arg415His

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
3.977e-06	0.0	0.0	0.0	0.0	0.0	8.791e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.611645	Polymorphism

DBSNP ID

1 combination linked to SEMA7A:c.1244G>A, p.Arg415His

1 disease linked to SEMA7A:c.1244G>A, p.Arg415His

Normosmic congenital hypogonadotropic hypogonadism

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