or
or
Exact

Results for "TM9SF1"

Variant Events: 6

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
TM9SF1     08C74770chr14:
24661571-24661571
CTintronicDe novo-5.26E-5Satterstrom2020 E
Trost2022 G
TM9SF1     REACH000233chr14:
24659805-24659805
GAexonicDe novononsynonymous SNVNM_001014842
NM_001289006
NM_006405
c.C1208T
c.C947T
c.C1208T
p.S403L
p.S316L
p.S403L
32.0-Trost2022 G
Zhou2022 GE
TM9SF1     111304chr14:
24658968-24658968
GAexonicnonsynonymous SNVNM_001289006
NM_006405
c.C1213T
c.C1474T
p.R405W
p.R492W
23.3-Woodbury-Smith2022 E
TM9SF1     SP0127084chr14:
24659768-24659768
ACexonicDe novosynonymous SNVNM_001014842
NM_001289006
NM_006405
c.T1245G
c.T984G
c.T1245G
p.L415L
p.L328L
p.L415L
--Fu2022 E
Trost2022 G
Zhou2022 GE
TM9SF1     SP0164586chr14:
24659497-24659497
GAUTR3De novo--Trost2022 G
TM9SF1     A000313chr14:
24662351-24662351
ATexonicDe novononsynonymous SNVNM_001014842
NM_001289006
NM_006405
c.T470A
c.T209A
c.T470A
p.I157K
p.I70K
p.I157K
21.4-Fu2022 E
Source Variant Information

, -

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
More