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Results for "MUC17"

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
MUC17     12676.p1chr7:
100679760-100679760
GAexonicDe novononsynonymous SNVNM_001040105c.G5063Ap.G1688E0.0440.0716Iossifov2012 E
MUC17     Cukier2014:37024chr7:
100692149-100692149
CTexonicUnknownstopgainNM_001040105c.C12559Tp.Q4187X52.00.0012Cukier2014 E
MUC17     iHART2631chr7:
100681742-100681743
ATAexonicMaternalframeshift deletionNM_001040105c.7046delTp.M2349fs--Ruzzo2019 G
MUC17     SSC09894chr7:
100681971-100681971
GAexonicDe novononsynonymous SNVNM_001040105c.G7274Ap.S2425N1.282-Lim2017 E
MUC17     iHART2633chr7:
100681742-100681743
ATAexonicMaternalframeshift deletionNM_001040105c.7046delTp.M2349fs--Ruzzo2019 G
MUC17     iHART2705chr7:
100701287-100701287
CTexonicPaternalstopgainNM_001040105c.C13444Tp.R4482X54.02.0E-4Ruzzo2019 G
MUC17     AC04-0020-01chr7:
100696348-100696348
GCexonicDe novosynonymous SNVNM_001040105c.G13185Cp.V4395V--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MUC17     3D612chr7:
100678377-100678377
GAexonicDe novononsynonymous SNVNM_001040105c.G3680Ap.R1227K1.848-Satterstrom2020 E
MUC17     13573.p1chr7:
100678693-100678693
TCexonicDe novosynonymous SNVNM_001040105c.T3996Cp.Y1332Y-0.0318Iossifov2012 E
MUC17     14378.p1chr7:
100679700-100679700
TGexonicDe novononsynonymous SNVNM_001040105c.T5003Gp.V1668G0.014-Krumm2015 E
MUC17     14378.p1chr7:
100679673-100679673
AGexonicDe novononsynonymous SNVNM_001040105c.A4976Gp.N1659S0.692-Krumm2015 E
MUC17     iHART2007chr7:
100679572-100679573
TCTexonicPaternalframeshift deletionNM_001040105c.4876delCp.P1626fs-2.472E-5Ruzzo2019 G
MUC17     14012.p1chr7:
100681971-100681971
GAexonicDe novononsynonymous SNVNM_001040105c.G7274Ap.S2425N1.282-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MUC17     1-0522-003chr7:
100677433-100677433
CGexonicDe novosynonymous SNVNM_001040105c.C2736Gp.T912T--Yuen2017 G
MUC17     iHART2006chr7:
100679572-100679573
TCTexonicPaternalframeshift deletionNM_001040105c.4876delCp.P1626fs-2.472E-5Ruzzo2019 G
MUC17     13844.p1chr7:
100682275-100682275
AGexonicDe novosynonymous SNVNM_001040105c.A7578Gp.P2526P-0.1626Iossifov2014 E
Kosmicki2017 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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