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Details for SEMA7A:c.442C>T, p.Arg148Trp

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
74710241	74417900

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.442C>T

PROTEIN CHANGE

p.Arg148Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.003	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003953	0.0001248	0.0	9.946e-05	0.004104	0.0	0.000159	0.0	9.801e-05

ESP
AA	EA
0.0	0.0001164

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.1882	Polymorphism

DBSNP ID

1 combination linked to SEMA7A:c.442C>T, p.Arg148Trp

1 disease linked to SEMA7A:c.442C>T, p.Arg148Trp

Kallmann syndrome

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