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Results for "C3"

Variant Events: 17

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
C3     11138.p1chr19:
6697642-6697642
CTintronicDe novo--Krumm2015 E
C3     14-613chr19:
6694545-6694545
GAexonicDe novosynonymous SNVNM_000064c.C3051Tp.G1017G--Trost2022 G
Zhou2022 GE
C3     09C87630chr19:
6678390-6678390
GCexonicDe novononsynonymous SNVNM_000064c.C4707Gp.I1569M17.54-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
C3     SP0065049chr19:
6702536-6702536
AGexonicDe novononsynonymous SNVNM_000064c.T2300Cp.F767S18.29-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
C3     SP0119541chr19:
6690640-6690640
GAexonicDe novosynonymous SNVNM_000064c.C3489Tp.N1163N-1.0E-4Trost2022 G
Zhou2022 GE
C3     08C73566chr19:
6719371-6719371
CTexonicDe novononsynonymous SNVNM_000064c.G118Ap.E40K27.08.239E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
C3     F9719-1chr19:
6709656-6709656
TCintronicDe novo--Satterstrom2020 E
Trost2022 G
C3     SP0115318chr19:
6713259-6713259
CTexonicDe novononsynonymous SNVNM_000064c.G944Ap.R315Q9.3463.312E-5Fu2022 E
Trost2022 G
Zhou2022 GE
C3     SP0107200chr19:
6690698-6690698
GAexonicDe novononsynonymous SNVNM_000064c.C3431Tp.T1144M25.14.121E-5Fu2022 E
Trost2022 G
Zhou2022 GE
C3     14245.p1chr19:
6709711-6709711
TGexonicDe novononsynonymous SNVNM_000064c.A1829Cp.K610T15.02-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
C3     MSSNG00158-003chr19:
6678948-6678948
AGintronicDe novo--Trost2022 G
C3     1-1172-003chr19:
6709016-6709016
TCintronicDe novo--Trost2022 G
C3     SP0046982chr19:
6684979-6684979
GAintronicDe novo--Fu2022 E
C3     SP0069658chr19:
6707331-6707331
GTintronicDe novo--Fu2022 E
C3     Wang2023:751chr19:
6714030-6714030
TCexonicDe novononsynonymous SNVNM_000064c.A746Gp.K249R10.31-Wang2023 E
C3     SP0031757chr19:
6697361-6697361
CTexonicDe novosynonymous SNVNM_000064c.G2790Ap.K930K--Fu2022 E
Zhou2022 GE
C3     SSC11115chr19:
6709711-6709711
TGexonicDe novononsynonymous SNVNM_000064c.A1829Cp.K610T15.02-Fu2022 E
Lim2017 E
Trost2022 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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