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Results for "SEMA4B"

Variant Events: 8

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
SEMA4B     200675370@1082034608chr15:
90771256-90771256
CTexonicDe novononsynonymous SNVNM_198925
NM_020210
c.C1895T
c.C1895T
p.S632L
p.S632L
14.287.0E-4Satterstrom2020 E
SEMA4B     08C72945chr15:
90760770-90760770
CTexonicDe novononsynonymous SNVNM_198925
NM_020210
c.C257T
c.C257T
p.A86V
p.A86V
19.42-Satterstrom2020 E
SEMA4B     Chen2017:20chr15:
90771256-90771256
CTexonicDe novononsynonymous SNVNM_198925
NM_020210
c.C1895T
c.C1895T
p.S632L
p.S632L
14.287.0E-4Chen2017 E
SEMA4B     AU3997302chr15:
90758302-90758302
GAintronicDe novo--Yuen2017 G
SEMA4B     AU3680301chr15:
90745996-90745996
GAintronicDe novo--Yuen2017 G
SEMA4B     11644.p1chr15:
90764905-90764905
GAexonicMosaicnonsynonymous SNVNM_198925
NM_020210
c.G769A
c.G769A
p.D257N
p.D257N
28.4-Dou2017 E
SEMA4B     7-0102-003chr15:
90738902-90738902
CTintronicDe novo--Yuen2017 G
SEMA4B     1-0263-003chr15:
90763059-90763059
CTexonicDe novononsynonymous SNVNM_198925
NM_020210
c.C419T
c.C419T
p.P140L
p.P140L
12.173.341E-5Yuen2016 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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