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Results for "MUC4"

Variant Events: 87

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     Shi2013:1chr3:
195510850-195510850		GTexonicInheritednonsynonymous SNVNM_018406c.C7601Ap.A2534D9.8835.0E-4Shi2013 G
MUC4     14240.p1chr3:
195509942-195509942		TTGGTGACAGGAAGCGAGGTGGCGTGACCTGTGAACACTGAGGAAGCGTCexonicDe novononframeshift insertionNM_018406c.8508_8509insGACGCTTCCTCAGTGTTCACAGGTCACGCCACCTCGCTTCCTGTCACCp.I2837delinsDASSVFTGHATSLPVTI--Satterstrom2020 E
MUC4     12829.p1chr3:
195506022-195506022		CCGTGGTGTCACCTGTTGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGexonicDe novononframeshift insertionNM_018406c.12428_12429insCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCAACAGGTGACACCACp.T4143delinsTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTT--Satterstrom2020 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     SSC08609chr3:
195507684-195507684		GAexonicDe novosynonymous SNVNM_018406c.C10767Tp.D3589D-6.184E-5Fu2022 E
Lim2017 E
MUC4     CC955.201chr3:
195511844-195511844		TGexonicMosaicnonsynonymous SNVNM_018406c.A6607Cp.T2203P4.4173.0E-4Lim2017 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
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
MUC4     14208.p1chr3:
195553205-195553206		ACAintergenicDe novo--Wilfert2021 G
MUC4     SP0035459chr3:
195512041-195512041		GAexonicDe novononsynonymous SNVNM_018406c.C6410Tp.T2137I2.3732.0E-4Fu2022 E
MUC4     14091.p1chr3:
195479489-195479490		AGGCintronicMaternal--Wilfert2021 G
MUC4     SP0000855chr3:
195509830-195509974		GACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAGexonicDe novononframeshift deletionNM_018406c.8477_8620delp.2826_2874del-0.0011Fu2022 E
MUC4     SP0061824chr3:
195508183-195508183		GAexonicDe novononsynonymous SNVNM_018406c.C10268Tp.T3423I6.3623.0E-4Fu2022 E
MUC4     SP0100556chr3:
195508139-195508139		CTexonicDe novononsynonymous SNVNM_018406c.G10312Ap.A3438T7.0390.0024Fu2022 E
MUC4     SP0047928chr3:
195508547-195508547		TCexonicDe novononsynonymous SNVNM_018406c.A9904Gp.T3302A8.2563.0E-4Fu2022 E
MUC4     SP0031609chr3:
195508499-195508499		CGexonicDe novononsynonymous SNVNM_018406c.G9952Cp.A3318P1.6733.0E-4Fu2022 E
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     SP0012511chr3:
195505957-195505957		TCexonicDe novononsynonymous SNVNM_018406c.A12494Gp.D4165G5.827-Fu2022 E
MUC4     SSC10347chr3:
195512399-195512399		GTexonicMosaicnonsynonymous SNVNM_018406c.C6052Ap.P2018T5.261-Lim2017 E
MUC4     SP0027116chr3:
195515412-195515412		GGGTGGTGACAGGAAGAGGGGTGGCGTGACexonicDe novoframeshift insertionNM_018406c.3038_3039insGTCACGCCACCCCTCTTCCTGTCACCACp.S1013fs--Fu2022 E
MUC4     13196.p1chr3:
195510958-195510958		GCexonicDe novononsynonymous SNVNM_018406c.C7493Gp.P2498R8.811-Krumm2015 E
MUC4     SP0104446chr3:
195508078-195508078		GAexonicDe novononsynonymous SNVNM_018406c.C10373Tp.P3458L7.9366.0E-4Fu2022 E
MUC4     13786.p1chr3:
195509626-195509626		GCexonicDe novononsynonymous SNVNM_018406c.C8825Gp.T2942S5.019-Krumm2015 E
MUC4     SP0028388chr3:
195508030-195508030		GTexonicDe novononsynonymous SNVNM_018406c.C10421Ap.P3474H4.7251.0E-4Fu2022 E
MUC4     SP0130030chr3:
195515291-195515291		TCexonicDe novononsynonymous SNVNM_018406c.A3160Gp.S1054G3.457-Fu2022 E
MUC4     SP0120891chr3:
195513802-195513802		GTexonicDe novononsynonymous SNVNM_018406c.C4649Ap.T1550N6.5981.0E-4Fu2022 E
MUC4     SP0031074chr3:
195508476-195508476		GAexonicDe novosynonymous SNVNM_018406c.C9975Tp.H3325H-6.158E-5Fu2022 E
MUC4     2-1207-003chr3:
195512612-195512612		ATexonicDe novononsynonymous SNVNM_018406c.T5839Ap.S1947T1.5928.033E-5Yuen2017 G
MUC4     SP0069644chr3:
195515326-195515326		GAexonicDe novononsynonymous SNVNM_018406c.C3125Tp.P1042L5.6923.0E-4Fu2022 E
MUC4     SP0090218chr3:
195510011-195510011		CTexonicDe novononsynonymous SNVNM_018406c.G8440Ap.A2814T8.0820.0376Fu2022 E
MUC4     SP0042511chr3:
195509813-195509813		GAexonicDe novononsynonymous SNVNM_018406c.C8638Tp.P2880S5.4189.45E-5Fu2022 E
MUC4     SP0054387chr3:
195513413-195513413		GAexonicDe novononsynonymous SNVNM_018406c.C5038Tp.P1680S7.096-Fu2022 E
MUC4     SP0073058chr3:
195510757-195510757		TAexonicDe novononsynonymous SNVNM_018406c.A7694Tp.D2565V5.4384.0E-4Fu2022 E
MUC4     SP0036976chr3:
195515270-195515390		CAGTGACAGGAAGAGGGGTGCTGTCACCTGTGGATGCTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATTCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGCexonicDe novononframeshift deletionNM_018406c.3061_3180delp.1021_1060del-4.412E-5Fu2022 E
MUC4     2-1741-003chr3:
195532287-195532287		GAintronicDe novo--Yuen2017 G
MUC4     SP0008356chr3:
195506857-195506905		GCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATAGexonicDe novononframeshift deletionNM_018406c.11546_11593delp.3849_3865del--Fu2022 E
MUC4     SP0110326chr3:
195515403-195515403		TCexonicDe novosynonymous SNVNM_018406c.A3048Gp.S1016S-0.0066Fu2022 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     SP0065978chr3:
195513758-195513998		GACCTGTGGATACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGACGTGACCTGTGGATGCTGAGGAAGTGCTAGTGACAGGAAGAGGCGTGGTGTCGexonicDe novononframeshift deletionNM_018406c.4453_4692delp.1485_1564del--Fu2022 E
MUC4     1-0518-003chr3:
195488225-195488225		CTintronicDe novo--Yuen2016 G
Yuen2017 G
MUC4     SP0120116chr3:
195507221-195507224		GGGTGexonicDe novononframeshift deletionNM_018406c.11227_11229delp.3743_3743del--Fu2022 E
MUC4     2-1567-003chr3:
195570056-195570056		CCTTintergenicDe novo--Yuen2017 G
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     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     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     13598.p1chr3:
195515198-195515198		CGexonicDe novononsynonymous SNVNM_018406c.G3253Cp.D1085H2.218-Iossifov2014 E
Kosmicki2017 E
MUC4     F10405-1chr3:
195517413-195517413		CTexonicDe novosynonymous SNVNM_018406c.G1038Ap.P346P-1.656E-5Fu2022 E
Satterstrom2020 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
Fu2022 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     Li2017:15021chr3:
195513382-195513382		GGAexonicUnknownframeshift insertionNM_018406c.5068_5069insTp.T1690fs--Li2017 T
MUC4     SSC07305chr3:
195505907-195505907		TCexonicDe novononsynonymous SNVNM_018406c.A12544Gp.T4182A12.619.046E-5Fu2022 E
MUC4     EGAN00001101259chr3:
195511739-195511741		CCTCexonicDe novoframeshift deletionNM_018406c.6710_6711delp.Q2237fs--Fu2022 E
MUC4     CC1273_201chr3:
195507445-195507445		TCexonicDe novononsynonymous SNVNM_018406c.A11006Gp.D3669G1.8020.0069Fu2022 E
MUC4     152312chr3:
195507104-195507104		ATexonicDe novononsynonymous SNVNM_018406c.T11347Ap.S3783T2.86-Fu2022 E
MUC4     121852chr3:
195509950-195509950		GTexonicDe novononsynonymous SNVNM_018406c.C8501Ap.P2834H6.820.0011Fu2022 E
MUC4     SSC11757chr3:
195509170-195509170		AGexonicDe novononsynonymous SNVNM_018406c.T9281Cp.L3094P6.3192.0E-4Fu2022 E
MUC4     SSC03274chr3:
195506437-195506437		CTexonicDe novononsynonymous SNVNM_018406c.G12014Ap.S4005N1.137.0E-4Fu2022 E
MUC4     SSC02199chr3:
195506435-195506435		TAexonicDe novononsynonymous SNVNM_018406c.A12016Tp.T4006S1.023-Fu2022 E
MUC4     A000426chr3:
195507064-195507064		GCexonicDe novononsynonymous SNVNM_018406c.C11387Gp.T3796S5.869-Fu2022 E
MUC4     SSC03069chr3:
195506843-195506843		CTexonicDe novononsynonymous SNVNM_018406c.G11608Ap.A3870T8.2270.0011Fu2022 E
MUC4     20-0500310-23chr3:
195510772-195510772		GGGGGTGGTGTCexonicDe novostopgainNM_018406c.7678_7679insGACACCACCCp.S2560_L2561delinsX--Satterstrom2020 E
MUC4     SSC06922chr3:
195509031-195509031		GAexonicDe novosynonymous SNVNM_018406c.C9420Tp.T3140T-2.0E-4Fu2022 E
MUC4     11413_p1chr3:
195515339-195515339		CTexonicDe novononsynonymous SNVNM_018406c.G3112Ap.V1038I2.368-Fu2022 E
MUC4     SSC09737chr3:
195510207-195510207		ATexonicDe novosynonymous SNVNM_018406c.T8244Ap.G2748G--Fu2022 E
MUC4     SSC04583chr3:
195509346-195509346		GTexonicDe novosynonymous SNVNM_018406c.C9105Ap.T3035T-0.0019Fu2022 E
MUC4     SSC09920chr3:
195513982-195513982		GAexonicDe novononsynonymous SNVNM_018406c.C4469Tp.P1490L6.273-Fu2022 E
MUC4     08C77861chr3:
195505250-195505250		GAexonicDe novosynonymous SNVNM_004532
NM_018406		c.C159T
c.C12867T		p.T53T
p.T4289T		--Neale2012 E
MUC4     152430chr3:
195511432-195511432		GAexonicDe novononsynonymous SNVNM_018406c.C7019Tp.T2340I3.3652.0E-4Fu2022 E
MUC4     14366_p1chr3:
195515305-195515305		GAexonicDe novononsynonymous SNVNM_018406c.C3146Tp.A1049V5.0462.0E-4Fu2022 E
MUC4     08C72239chr3:
195515257-195515257		GAexonicDe novononsynonymous SNVNM_018406c.C3194Tp.A1065V7.654.0E-4Fu2022 E
MUC4     006654790087-Cchr3:
195507173-195507173		GGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAexonicDe novononframeshift insertionNM_018406c.11277_11278insTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCp.P3760delinsSLPVTDTSSVSTGHATP-0.0059Fu2022 E
MUC4     ASC_11207-1chr3:
195513255-195513255		AGexonicDe novosynonymous SNVNM_018406c.T5196Cp.T1732T--Fu2022 E
MUC4     CC1376_202_1chr3:
195510522-195510522		GAexonicDe novosynonymous SNVNM_018406c.C7929Tp.V2643V--Fu2022 E
MUC4     6271020283207-Cchr3:
195509765-195509861		GGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGexonicDe novononframeshift deletionNM_018406c.8590_8685delp.2864_2895del-6.0E-4Fu2022 E
MUC4     GM182291chr3:
195508043-195508043		TCexonicDe novononsynonymous SNVNM_018406c.A10408Gp.T3470A5.7780.001Fu2022 E
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
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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.
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