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Results for "SEMA4B"

Variant Events: 16

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
Trost2022 G
Zhou2022 GE
SEMA4B     4-0086-003chr15:
90748475-90748475
CTintronicDe novo--Trost2022 G
SEMA4B     SP0225202chr15:
90768411-90768411
GCsplicingDe novosplicing17.96-Trost2022 G
SEMA4B     SP0116067chr15:
90744796-90744796
GAUTR5De novo--Fu2022 E
SEMA4B     SP0088192chr15:
90771840-90771840
CTexonicDe novononsynonymous SNVNM_198925
NM_020210
c.C2479T
c.C2479T
p.R827C
p.R827C
17.162.534E-5Fu2022 E
Trost2022 G
Zhou2022 GE
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     SP0005195chr15:
90728082-90728082
CTupstreamDe novo--Fu2022 E
Trost2022 G
SEMA4B     AU3680301chr15:
90745996-90745996
GAintronicDe novo--Trost2022 G
Yuen2017 G
SEMA4B     AU2269301chr15:
90760770-90760770
CTexonicnonsynonymous SNVNM_198925
NM_020210
c.C257T
c.C257T
p.A86V
p.A86V
19.42-Zhou2022 GE
SEMA4B     11644.p1chr15:
90764905-90764905
GAexonicMosaicnonsynonymous SNVNM_198925
NM_020210
c.G769A
c.G769A
p.D257N
p.D257N
28.4-Dou2017 E
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
Zhou2022 GE
SEMA4B     mAGRE4507chr15:
90760772-90760772
CTexonicPaternalstopgainNM_198925
NM_020210
c.C259T
c.C259T
p.R87X
p.R87X
19.77-Cirnigliaro2023 G
SEMA4B     08C72945chr15:
90760770-90760770
CTexonicDe novononsynonymous SNVNM_198925
NM_020210
c.C257T
c.C257T
p.A86V
p.A86V
19.42-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SEMA4B     1-0263-003Bchr15:
90763059-90763059
CTexonicDe novononsynonymous SNVNM_198925
NM_020210
c.C419T
c.C419T
p.P140L
p.P140L
12.173.341E-5Trost2022 G
Zhou2022 GE
SEMA4B     AU3997302chr15:
90758302-90758302
GAintronicDe novo--Trost2022 G
Yuen2017 G
SEMA4B     7-0102-003chr15:
90738902-90738902
CTintronicDe novo--Yuen2017 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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