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Results for "MUC4"

Variant Events: 41

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
MUC4     Shi2013:2chr3:
195510850-195510850		GTexonicInheritednonsynonymous SNVNM_018406c.C7601Ap.A2534D9.8835.0E-4Shi2013 G
MUC4     13293.p1chr3:
195509428-195509428		GAexonicDe novononsynonymous SNVNM_018406c.C9023Tp.S3008F7.6874.0E-4Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
MUC4     Li2017:23673chr3:
195488430-195488430		CTexonicUnknownnonsynonymous SNVNM_138297
NM_004532
NM_018406		c.G1678A
c.G1831A
c.G14539A		p.D560N
p.D611N
p.D4847N		17.43-Li2017 T
MUC4     A24chr3:
195510226-195510226		GGGexonicDe novoframeshift insertionNM_018406c.8225dupCp.T2742fs--Wu2018 G
MUC4     Shi2013:1chr3:
195510850-195510850		GTexonicInheritednonsynonymous SNVNM_018406c.C7601Ap.A2534D9.8835.0E-4Shi2013 G
MUC4     A4chr3:
195513384-195513385		AGAexonicDe novoframeshift deletionNM_018406c.5066delCp.A1689fs--Wu2018 G
MUC4     80001104634chr3:
195506953-195506953		GAexonicDe novononsynonymous SNVNM_018406c.C11498Tp.A3833V6.5035.0E-4Satterstrom2020 E
MUC4     09C86928chr3:
195511272-195511279		TGCTGAGGTexonicDe novoframeshift deletionNM_018406c.7172_7178delp.S2391fs-1.0E-4Satterstrom2020 E
MUC4     13635.p1chr3:
195507684-195507684		GAexonicDe novosynonymous SNVNM_018406c.C10767Tp.D3589D-6.184E-5Iossifov2014 E
Kosmicki2017 E
MUC4     12573.p1chr3:
195511918-195511918		GTexonicDe novononsynonymous SNVNM_018406c.C6533Ap.P2178H6.5410.0195Iossifov2014 E
Kosmicki2017 E
MUC4     Li2017:39chr3:
195513289-195513289		AAGexonicUnknownframeshift insertionNM_018406c.5161_5162insCp.V1721fs--Li2017 T
MUC4     14240.p1chr3:
195509942-195509942		TTGGTGACAGGAAGCGAGGTGGCGTGACCTGTGAACACTGAGGAAGCGTCexonicDe novononframeshift insertionNM_018406c.8508_8509insGACGCTTCCTCAGTGTTCACAGGTCACGCCACCTCGCTTCCTGTCACCp.I2837delinsDASSVFTGHATSLPVTI--Satterstrom2020 E
MUC4     13741.p1chr3:
195512768-195512768		TAexonicDe novononsynonymous SNVNM_018406c.A5683Tp.N1895Y6.1160.084Iossifov2014 E
Kosmicki2017 E
MUC4     13010.p1chr3:
195509304-195509350		TGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGTexonicDe novoframeshift deletionNM_018406c.9101_9146delp.S3034fs--Satterstrom2020 E
MUC4     12829.p1chr3:
195506022-195506022		CCGTGGTGTCACCTGTTGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGexonicDe novononframeshift insertionNM_018406c.12428_12429insCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCAACAGGTGACACCACp.T4143delinsTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTT--Satterstrom2020 E
MUC4     13598.p1chr3:
195515198-195515198		CGexonicDe novononsynonymous SNVNM_018406c.G3253Cp.D1085H2.218-Iossifov2014 E
Kosmicki2017 E
MUC4     14482.p1chr3:
195521459-195521459		CGintronicDe novo--Turner2016 G
MUC4     14023.p1chr3:
195509246-195509246		GTexonicDe novononsynonymous SNVNM_018406c.C9205Ap.H3069N0.006-Lim2017 E
MUC4     F10405-1chr3:
195517413-195517413		CTexonicDe novosynonymous SNVNM_018406c.G1038Ap.P346P-1.656E-5Satterstrom2020 E
MUC4     SSC08609chr3:
195507684-195507684		GAexonicDe novosynonymous SNVNM_018406c.C10767Tp.D3589D-6.184E-5Lim2017 E
MUC4     CC955.201chr3:
195511844-195511844		TGexonicMosaicnonsynonymous SNVNM_018406c.A6607Cp.T2203P4.4173.0E-4Lim2017 E
MUC4     SP0015103chr3:
195486122-195486122		CTexonicDe novosynonymous SNVNM_138297
NM_004532
NM_018406		c.G1998A
c.G2151A
c.G14859A		p.P666P
p.P717P
p.P4953P		-8.249E-5Feliciano2019 E
MUC4     161008chr3:
195508955-195508957		CCTCexonicDe novoframeshift deletionNM_018406c.9494_9495delp.Q3165fs-2.0E-4Satterstrom2020 E
MUC4     08C74343chr3:
195506312-195506399		TGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAACAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGTexonicDe novononframeshift deletionNM_018406c.12052_12138delp.4018_4046del-7.906E-5Satterstrom2020 E
MUC4     13850.p1chr3:
195509511-195509511		GAexonicMosaicsynonymous SNVNM_018406c.C8940Tp.T2980T--Lim2017 E
MUC4     NDAR_INVNK094EPH_wes1chr3:
195515997-195515997		GTexonicDe novononsynonymous SNVNM_018406c.C2454Ap.S818R5.7428.295E-6DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MUC4     Li2017:15021chr3:
195513382-195513382		GGAexonicUnknownframeshift insertionNM_018406c.5068_5069insTp.T1690fs--Li2017 T
MUC4     14208.p1chr3:
195553205-195553206		ACAintergenicDe novo--Wilfert2021 G
MUC4     14091.p1chr3:
195479489-195479490		AGGCintronicMaternal--Wilfert2021 G
MUC4     2-1207-003chr3:
195512590-195512590		GTexonicDe novononsynonymous SNVNM_018406c.C5861Ap.P1954H2.532-Yuen2017 G
MUC4     SSC12823chr3:
195512542-195512542		GAexonicMosaicnonsynonymous SNVNM_018406c.C5909Tp.P1970L5.066-Lim2017 E
MUC4     SSC10347chr3:
195512399-195512399		GTexonicMosaicnonsynonymous SNVNM_018406c.C6052Ap.P2018T5.261-Lim2017 E
MUC4     13196.p1chr3:
195510958-195510958		GCexonicDe novononsynonymous SNVNM_018406c.C7493Gp.P2498R8.811-Krumm2015 E
MUC4     13786.p1chr3:
195509626-195509626		GCexonicDe novononsynonymous SNVNM_018406c.C8825Gp.T2942S5.019-Krumm2015 E
MUC4     2-1207-003chr3:
195512612-195512612		ATexonicDe novononsynonymous SNVNM_018406c.T5839Ap.S1947T1.5928.033E-5Yuen2017 G
MUC4     20-0500310-23chr3:
195510772-195510772		GGGGGTGGTGTCexonicDe novostopgainNM_018406c.7678_7679insGACACCACCCp.S2560_L2561delinsX--Satterstrom2020 E
MUC4     2-1741-003chr3:
195532287-195532287		GAintronicDe novo--Yuen2017 G
MUC4     08C77861chr3:
195505250-195505250		GAexonicDe novosynonymous SNVNM_004532
NM_018406		c.C159T
c.C12867T		p.T53T
p.T4289T		--Neale2012 E
MUC4     iHART1291chr3:
195501120-195501121		TCTexonicPaternalframeshift deletionNM_138297
NM_004532
NM_018406		c.138delG
c.291delG
c.12999delG		p.R46fs
p.R97fs
p.R4333fs		-1.0E-4Ruzzo2019 G
MUC4     1-0518-003chr3:
195488225-195488225		CTintronicDe novo--Yuen2016 G
Yuen2017 G
MUC4     2-1567-003chr3:
195570056-195570056		CCTTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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
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