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Results for "C2"

Variant Events: 14

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
C2     3701_18auchr6:
31896750-31896750
GAintronicDe novo--Fu2022 E
C2     mAGRE5149chr6:
31910877-31910877
GAsplicingMaternalsplicing19.866.024E-5Cirnigliaro2023 G
C2     Chen2017:89chr6:
31896646-31896646
CTexonicDe novononsynonymous SNVNM_000063
NM_001282458
NM_001282459
c.C394T
c.C307T
c.C394T
p.R132C
p.R103C
p.R132C
12.981.652E-5Chen2017 E
C2     200675594@1082034690chr6:
31896646-31896646
CTexonicDe novononsynonymous SNVNM_000063
NM_001282458
NM_001282459
c.C394T
c.C307T
c.C394T
p.R132C
p.R103C
p.R132C
12.981.652E-5Satterstrom2020 E
Trost2022 G
Zhou2022 GE
C2     iHART3046chr6:
31910877-31910877
GAsplicingPaternalsplicing19.866.024E-5Ruzzo2019 G
C2     iHART3047chr6:
31910877-31910877
GAsplicingPaternalsplicing19.866.024E-5Ruzzo2019 G
C2     mAGRE5148chr6:
31910877-31910877
GAsplicingMaternalsplicing19.866.024E-5Cirnigliaro2023 G
C2     SP0093093chr6:
31911648-31911648
ACintronicDe novo--Fu2022 E
C2     SP0105355chr6:
31911214-31911214
CCGexonicframeshift insertionNM_001178063
NM_001282457
NM_001145903
NM_000063
NM_001282458
c.836dupG
c.740dupG
c.1082dupG
c.1478dupG
c.1391dupG
p.R279fs
p.R247fs
p.R361fs
p.R493fs
p.R464fs
-8.624E-6Zhou2022 GE
C2     mAGRE3047chr6:
31910877-31910877
GAsplicingPaternalsplicing19.866.024E-5Cirnigliaro2023 G
C2     mAGRE3046chr6:
31910877-31910877
GAsplicingPaternalsplicing19.866.024E-5Cirnigliaro2023 G
C2     200675594_1082034690chr6:
31896646-31896646
CTexonicDe novononsynonymous SNVNM_000063
NM_001282458
NM_001282459
c.C394T
c.C307T
c.C394T
p.R132C
p.R103C
p.R132C
12.981.652E-5Fu2022 E
C2     AU4079301chr6:
31893384-31893384
GAintronicDe novo--Yuen2017 G
C2     SP0012198chr6:
31901883-31901883
CTintronicDe novo--Fu2022 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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