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Results for "C7orf26"

Variant Events: 11

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
C7orf26     iHART2342chr7:
6641772-6641772
GTsplicingPaternalsplicing25.1-Ruzzo2019 G
C7orf26     SP0125546chr7:
6647714-6647714
CCCCCCCCCCCCCCCCGexonicDe novononframeshift insertionNM_024067
NM_001303039
c.1272_1273insCCCCCCCCCCCCCCG
c.981_982insCCCCCCCCCCCCCCG
p.A424delinsAPPPPP
p.A327delinsAPPPPP
--Fu2022 E
C7orf26     12902.p1chr7:
6647619-6647619
GAexonicnonsynonymous SNVNM_024067
NM_001303039
c.G1177A
c.G886A
p.V393M
p.V296M
19.328.85E-6Zhou2022 GE
C7orf26     592-05-104390chr7:
6639943-6639943
CTexonicDe novononsynonymous SNVNM_024067
NM_001303039
c.C1064T
c.C773T
p.A355V
p.A258V
30.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
C7orf26     SP0052047chr7:
6647908-6647908
GCUTR3De novo--Fu2022 E
Trost2022 G
C7orf26     SP0140084chr7:
6634211-6634211
CTexonicDe novononsynonymous SNVNM_001303039
NM_024067
c.C503T
c.C560T
p.A168V
p.A187V
15.748.0E-4Trost2022 G
C7orf26     SP0160967chr7:
6631304-6631304
CTexonicDe novononsynonymous SNVNM_024067c.C220Tp.L74F27.5-Trost2022 G
C7orf26     Cukier2014:17245chr7:
6631481-6631481
GTexonicUnknownnonsynonymous SNVNM_001303039
NM_024067
c.G340T
c.G397T
p.A114S
p.A133S
27.7-Cukier2014 E
C7orf26     mAGRE2342chr7:
6641772-6641772
GTsplicingPaternalsplicing25.1-Cirnigliaro2023 G
C7orf26     11456.p1chr7:
6641199-6641199
TAintronicDe novo--Turner2016 G
C7orf26     ASC_18A072chr7:
6634074-6634074
CTexonicDe novosynonymous SNVNM_001303039
NM_024067
c.C366T
c.C423T
p.P122P
p.P141P
-8.239E-6Fu2022 E
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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