or
or
Exact

Results for "MUC2"

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
MUC2   09C82560chr11:
1101090-1101090
GAexonicDe novononsynonymous SNVNM_002457c.G7477Ap.V2493I6.3946.705E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MUC2   Chen2017:83chr11:
1075819-1075819
CTexonicDe novononsynonymous SNVNM_002457c.C245Tp.P82L0.195-Chen2017 E
MUC2   2-0256-004chr11:
1132281-1132281
TCintergenicDe novo--Yuen2017 G
MUC2   12782.p1chr11:
1093105-1093105
CGexonicDe novononsynonymous SNVNM_002457c.C4924Gp.P1642A4.06-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
MUC2   12693.p1chr11:
1101883-1101883
GAintronicDe novo-1.366E-5Krumm2015 E
Satterstrom2020 E
MUC2   Lim2017:68584chr11:
1104228-1104228
GAexonicDe novononsynonymous SNVNM_002457c.G8407Ap.A2803T8.35-Lim2017 E
MUC2   11391.p1chr11:
1084364-1084364
CTexonicDe novosynonymous SNVNM_002457c.C2496Tp.G832G-1.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MUC2   11441.p1chr11:
1090362-1090362
GAexonicDe novononsynonymous SNVNM_002457c.G3658Ap.V1220I0.6443.199E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
MUC2   14558.p1chr11:
1090971-1090971
CTexonicDe novononsynonymous SNVNM_002457c.C3866Tp.P1289L5.0531.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MUC2   11453.p1chr11:
1104228-1104228
GAexonicDe novononsynonymous SNVNM_002457c.G8407Ap.A2803T8.35-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
MUC2   13557.p1chr11:
1104266-1104266
GAUTR3De novo-8.823E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MUC2   A27chr11:
1133550-1133551
AGAintergenicDe novo--Wu2018 G
MUC2   08C77419chr11:
1084372-1084372
TCexonicDe novononsynonymous SNVNM_002457c.T2504Cp.I835T7.789-Satterstrom2020 E
MUC2   2-1374-003chr11:
1104765-1104765
GGCAdownstreamDe novo--Yuen2017 G
MUC2   09C82566chr11:
1093562-1093562
CGexonicDe novononsynonymous SNVNM_002457c.C5381Gp.T1794S0.008-DeRubeis2014 E
Kosmicki2017 E
MUC2   09C90833chr11:
1093851-1093851
ACexonicDe novosynonymous SNVNM_002457c.A5658Cp.P1886P-3.0E-4Satterstrom2020 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