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Results for "MUC3A"

Variant Events: 28

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
MUC3A     1-0004-003chr7:
100548569-100548569		TAintronicDe novo--Yuen2017 G
MUC3A     PN400128 Complex Event; expand row to view variants  Unknownframeshift deletionNM_005960
NM_005960		c.872delC
c.869_870del		p.T291fs
p.R290fs		-3.541E-5Leblond2019 E
Leblond2019 E
MUC3A     1-0458-003chr7:
100608958-100608958		TCintronicDe novo--Yuen2017 G
MUC3A     2-1174-005Bchr7:
100608961-100608961		CTintronicDe novo--Yuen2017 G
MUC3A     PN400249 Complex Event; expand row to view variants  Unknownframeshift deletionNM_005960
NM_005960		c.872delC
c.869_870del		p.T291fs
p.R290fs		-3.541E-5Leblond2019 E
Leblond2019 E
MUC3A     PN400489chr7:
100551573-100551574		CACexonicUnknownframeshift deletionNM_005960c.2155delAp.R719fs-6.0E-4Leblond2019 E
MUC3A     PN400562chr7:
100551329-100551329		CCAexonicUnknownframeshift insertionNM_005960c.1910_1911insAp.P637fs-8.873E-6Leblond2019 E
MUC3A     PN400562chr7:
100551326-100551326		CCAexonicUnknownframeshift insertionNM_005960c.1908dupAp.T636fs-8.869E-6Leblond2019 E
MUC3A     PN400104 Complex Event; expand row to view variants  Unknownframeshift deletionNM_005960
NM_005960		c.872delC
c.869_870del		p.T291fs
p.R290fs		-3.541E-5Leblond2019 E
Leblond2019 E
MUC3A     PN400543 Complex Event; expand row to view variants  Unknownframeshift deletionNM_005960
NM_005960		c.869_870del
c.872delC		p.R290fs
p.T291fs		-3.541E-5Leblond2019 E
Leblond2019 E
MUC3A     2-1174-006chr7:
100608961-100608961		CTintronicDe novo--Yuen2017 G
MUC3A     PN400215chr7:
100551326-100551326		CCAexonicUnknownframeshift insertionNM_005960c.1908dupAp.T636fs-8.869E-6Leblond2019 E
MUC3A     2-0240-004chr7:
100548878-100548878		TAintronicDe novo--Yuen2017 G
MUC3A     PN400371chr7:
100551573-100551574		CACexonicUnknownframeshift deletionNM_005960c.2155delAp.R719fs-6.0E-4Leblond2019 E
MUC3A     PN400215chr7:
100551329-100551329		CCAexonicUnknownframeshift insertionNM_005960c.1910_1911insAp.P637fs-8.873E-6Leblond2019 E
MUC3A     PN400348 Complex Event; expand row to view variants  Unknownframeshift deletionNM_005960
NM_005960		c.872delC
c.869_870del		p.T291fs
p.R290fs		-3.541E-5Leblond2019 E
Leblond2019 E
MUC3A     PN400283 Complex Event; expand row to view variants  Unknownframeshift deletionNM_005960
NM_005960		c.872delC
c.869_870del		p.T291fs
p.R290fs		-3.541E-5Leblond2019 E
Leblond2019 E
MUC3A     PN400190 Complex Event; expand row to view variants  Unknownframeshift deletionNM_005960
NM_005960		c.872delC
c.869_870del		p.T291fs
p.R290fs		-3.541E-5Leblond2019 E
Leblond2019 E
MUC3A     SSC04242chr7:
100549905-100549905		GCexonicDe novosynonymous SNVNM_005960c.G486Cp.V162V--Fu2022 E
MUC3A     5-0071-003chr7:
100548578-100548578		TCintronicDe novo--Yuen2017 G
MUC3A     PN400477chr7:
100551573-100551574		CACexonicUnknownframeshift deletionNM_005960c.2155delAp.R719fs-6.0E-4Leblond2019 E
MUC3A     PN400231chr7:
100551329-100551329		CCAexonicUnknownframeshift insertionNM_005960c.1910_1911insAp.P637fs-8.873E-6Leblond2019 E
MUC3A     PN400375chr7:
100551573-100551574		CACexonicUnknownframeshift deletionNM_005960c.2155delAp.R719fs-6.0E-4Leblond2019 E
MUC3A     PN400231chr7:
100551326-100551326		CCAexonicUnknownframeshift insertionNM_005960c.1908dupAp.T636fs-8.869E-6Leblond2019 E
MUC3A     1-0595-004chr7:
100547852-100547852		GCintronicDe novo--Yuen2017 G
MUC3A     PN400576 Complex Event; expand row to view variants  Unknownframeshift deletionNM_005960
NM_005960		c.869_870del
c.872delC		p.R290fs
p.T291fs		-3.541E-5Leblond2019 E
Leblond2019 E
MUC3A     PN400349chr7:
100609561-100609562		TGTexonicUnknownframeshift deletionNM_005960c.4124delGp.W1375fs-1.519E-5Leblond2019 E
MUC3A     5-0055-004chr7:
100611478-100611478		CTUTR3De novo--Yuen2017 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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