or
or
Exact

Results for "MIB1"

Variant Events: 58

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
MIB1     SP0055931chr18:
19345792-19345792
CTexonicDe novostopgainNM_020774c.C289Tp.R97X39.03.295E-5Fu2022 E
Trost2022 G
Zhou2022 GE
MIB1     JASD_Fam0050chr18:
19444568-19444568
CTexonicDe novononsynonymous SNVNM_020774c.C2962Tp.R988C24.08.237E-6Takata2018 E
MIB1     PN400231chr18:
19395637-19395637
GTexonicUnknownstopgainNM_020774c.G1540Tp.E514X40.08.242E-6Leblond2019 E
MIB1     SP0080161chr18:
19321618-19321618
AAGexonicDe novoframeshift insertionNM_020774c.75dupGp.K25fs--Fu2022 E
Trost2022 G
Zhou2022 GE
MIB1     SP0060516chr18:
19427014-19427014
AGexonicDe novononsynonymous SNVNM_020774c.A2321Gp.Q774R11.56-Fu2022 E
Trost2022 G
Zhou2022 GE
MIB1     SP0070035chr18:
19426998-19426998
CTexonicDe novostopgainNM_020774c.C2305Tp.R769X41.03.296E-5Fu2022 E
Trost2022 G
Zhou2022 GE
MIB1     2-0002-005chr18:
19630293-19630293
GAintergenicDe novo--Yuen2017 G
MIB1     AU3787303chr18:
19450863-19450863
TCUTR3De novo--Trost2022 G
Yuen2017 G
MIB1     AU4164301chr18:
19714232-19714232
TAintergenicDe novo--Yuen2017 G
MIB1     SP0036690chr18:
19437224-19437224
CAintronicDe novo--Fu2022 E
MIB1     iHART2747chr18:
19353583-19353583
ACsplicingPaternalsplicing15.43-Ruzzo2019 G
MIB1     PN400232chr18:
19395637-19395637
GTexonicUnknownstopgainNM_020774c.G1540Tp.E514X40.08.242E-6Leblond2019 E
MIB1     14484.p1chr18:
19427020-19427020
CGexonicDe novononsynonymous SNVNM_020774c.C2327Gp.P776R26.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
MIB1     iHART2077chr18:
19378063-19378063
CTexonicMaternalstopgainNM_020774c.C1111Tp.R371X41.01.0E-4Ruzzo2019 G
MIB1     2-1283-003chr18:
19377022-19377022
TTAintronicDe novo--Trost2022 G
Yuen2017 G
MIB1     iHART2748chr18:
19353583-19353583
ACsplicingPaternalsplicing15.43-Ruzzo2019 G
MIB1     iHART1824chr18:
19437141-19437141
CTexonicPaternalstopgainNM_020774c.C2716Tp.R906X42.06.6E-5Ruzzo2019 G
MIB1     2-1148-004chr18:
19495744-19495744
CTintergenicDe novo--Yuen2017 G
MIB1     5-0045-003chr18:
19361810-19361810
TCintronicDe novo--Trost2022 G
Yuen2017 G
MIB1     4-0082-004chr18:
19332050-19332050
AGintronicDe novo--Trost2022 G
MIB1     P6Q4Z_01chr18:
19341532-19341532
CGintronicDe novo--Trost2022 G
MIB1     SP0034975chr18:
19378086-19378086
CTexonicDe novosynonymous SNVNM_020774c.C1134Tp.D378D--Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
MIB1     MSSNG00037-004Achr18:
19322361-19322365
TAGAGTintronicDe novo--Trost2022 G
MIB1     AC05-0017-01chr18:
19379892-19379892
AGexonicDe novononsynonymous SNVNM_020774c.A1328Gp.D443G24.9-Lim2017 E
MIB1     mAGRE1824chr18:
19437141-19437141
CTexonicPaternalstopgainNM_020774c.C2716Tp.R906X42.06.6E-5Cirnigliaro2023 G
MIB1     mAGRE2077chr18:
19378063-19378063
CTexonicMaternalstopgainNM_020774c.C1111Tp.R371X41.01.0E-4Cirnigliaro2023 G
MIB1     mAGRE4949chr18:
19371465-19371465
CTexonicPaternalstopgainNM_020774c.C1039Tp.R347X39.04.947E-5Cirnigliaro2023 G
MIB1     7-0328-003chr18:
19428338-19428338
GAintronicDe novo--Trost2022 G
MIB1     mAGRE4948chr18:
19371465-19371465
CTexonicPaternalstopgainNM_020774c.C1039Tp.R347X39.04.947E-5Cirnigliaro2023 G
MIB1     AU4496301chr18:
19486343-19486343
GAintergenicDe novo--Yuen2017 G
MIB1     mAGRE2748chr18:
19353583-19353583
ACsplicingPaternalsplicing15.43-Cirnigliaro2023 G
MIB1     7-0361-003chr18:
19361409-19361409
TCintronicDe novo--Trost2022 G
MIB1     mAGRE2747chr18:
19353583-19353583
ACsplicingPaternalsplicing15.43-Cirnigliaro2023 G
MIB1     SP0132913chr18:
19379800-19379800
AGsplicingDe novosplicing22.5-Trost2022 G
MIB1     3-0446-000chr18:
19554753-19554753
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
MIB1     5-0017-004chr18:
19553314-19553314
ACintergenicDe novo--Yuen2017 G
MIB1     2-1366-004chr18:
19322915-19322915
TAintronicDe novo--Trost2022 G
Yuen2017 G
MIB1     13874.p1chr18:
19711576-19711576
GTintergenicDe novo--Turner2016 G
MIB1     AU4483301chr18:
19610862-19610862
CGintergenicDe novo--Yuen2017 G
MIB1     1-0222-003chr18:
19634116-19634116
TCintergenicDe novo--Yuen2017 G
MIB1     1-0155-003chr18:
19661512-19661512
AGintergenicDe novo--Yuen2017 G
MIB1     13964.p1chr18:
19320854-19320854
CGupstreamDe novo--Turner2016 G
MIB1     PN400230chr18:
19395637-19395637
GTexonicUnknownstopgainNM_020774c.G1540Tp.E514X40.08.242E-6Leblond2019 E
MIB1     1-0323-004chr18:
19577486-19577486
CTintergenicDe novo--Yuen2017 G
MIB1     9480-1chr18:
19345722-19345722
TCintronicDe novo--Fu2022 E
MIB1     AU2140306chr18:
19564361-19564361
AGintergenicDe novo--Yuen2017 G
MIB1     AU053503chr18:
19483788-19483788
CTintergenicDe novo--Yuen2017 G
MIB1     2-0102-003chr18:
19414165-19414165
GAintronicDe novo--Trost2022 G
Yuen2017 G
MIB1     AU024608chr18:
19670338-19670338
CTintergenicDe novo--Yuen2017 G
MIB1     2-1230-003chr18:
19538951-19538951
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
MIB1     AU062204chr18:
19615751-19615751
CGintergenicDe novo--Yuen2017 G
MIB1     AU062204chr18:
19616196-19616196
CTintergenicDe novo--Yuen2017 G
MIB1     AU062204chr18:
19616213-19616213
ATintergenicDe novo--Yuen2017 G
MIB1     14484_p1chr18:
19427020-19427020
CGexonicDe novononsynonymous SNVNM_020774c.C2327Gp.P776R26.3-Fu2022 E
MIB1     2-0307-004chr18:
19707854-19707854
GAintergenicDe novo--Yuen2017 G
MIB1     AU062204chr18:
19615546-19615546
CGintergenicDe novo--Yuen2017 G
MIB1     1-0455-004chr18:
19629177-19629177
TGintergenicDe novo--Yuen2017 G
MIB1     1-0493-003chr18:
19356066-19356066
ACintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
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