Q8IUX1 · T126B_HUMAN

  • Protein
    Complex I assembly factor TMEM126B, mitochondrial
  • Gene
    TMEM126B
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

123020406080100120140160180200220
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7511890162V>AExAC
TOPMed
gnomAD
rs7511890162V>GExAC
TOPMed
gnomAD
rs20821390902V>MEnsembl
rs11938584164F>CTOPMed
gnomAD
rs14654586224F>LTOPMed
gnomAD
rs14604828854F>VTOPMed
gnomAD
rs11938584164F>YTOPMed
gnomAD
rs12861714145G>ATOPMed
TCGA novel
rs2082139928
5G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
rs14404396166Y>*TOPMed
gnomAD
rs13742405476Y>CgnomAD
rs9809631677E>KVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV001911517
rs980963167
7E>QVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs12362738678A>SgnomAD
rs9003272868A>VTOPMed
gnomAD
rs9973276679G>ETOPMed
rs9973276679G>VTOPMed
rs120175818910T>AgnomAD
rs103383873010T>ITOPMed
gnomAD
rs103383873010T>STOPMed
gnomAD
rs95060529511K>NTOPMed
rs57347599811K>T1000Genomes
ExAC
gnomAD
rs121267042412P>LTOPMed
gnomAD
rs121267042412P>QTOPMed
gnomAD
rs121267042412P>RTOPMed
gnomAD
rs215330053312P>SVariant of uncertain significance (Ensembl)Ensembl
rs54041319313R>G1000Genomes
rs208214235913R>STOPMed
rs159143286413R>TEnsembl
rs142703707114D>YTOPMed
rs145582384815S>LgnomAD
rs125079214915S>TgnomAD
rs96081772917V>MTOPMed
gnomAD
rs119467370918V>LTOPMed
gnomAD
rs119467370918V>MTOPMed
gnomAD
rs77943051520V>GExAC
gnomAD
rs208214327120V>LVariant of uncertain significance (Ensembl)TOPMed
rs156578687421G>EEnsembl
rs100453183522T>IVariant of uncertain significance (Ensembl)Ensembl
rs101586310025A>ETOPMed
gnomAD
rs99224693025A>TTOPMed
gnomAD
rs208214428426P>AgnomAD
COSV100729016
RCV001568157
rs115581134
28V>ABenign (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs215330557230K>MEnsembl
rs14421071630K>NESP
ExAC
TOPMed
rs208229968930K>QTOPMed
rs76984360933A>EExAC
gnomAD
rs118797831034S>FTOPMed
rs97290222435M>RgnomAD
rs97290222435M>TgnomAD
rs76318087235M>VExAC
gnomAD
rs76412109136H>RExAC
gnomAD
rs135675401236H>YgnomAD
rs125951795138Q>HgnomAD
rs148923083239P>HgnomAD
COSV10072902040S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs75707406240S>REnsembl
rs77446524441P>LExAC
gnomAD
rs156579100141P>TgnomAD
rs14340392442S>CLikely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV001569881
RCV003931203
rs143403924
42S>F
TMEM126B-related disorder (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs208230077942S>PTOPMed
rs147396586043L>PTOPMed
gnomAD
TCGA novel43L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs208230104544E>VTOPMed
RCV002030722
rs750029897
45D>HVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs75002989745D>YVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001329079
RCV002538418
rs764565613
46A>missing
Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
rs208230118846A>ETOPMed
rs3517477247K>IEnsembl
rs3517477247K>REnsembl
rs208230139449R>GgnomAD
rs208230145049R>KEnsembl
rs13997435750R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
rs76611718550R>SExAC
gnomAD
rs136293315651P>ATOPMed
gnomAD
rs75334342051P>LExAC
TOPMed
gnomAD
rs75334342051P>RExAC
TOPMed
gnomAD
rs208230202052M>RTOPMed
rs75452561252M>VExAC
TOPMed
gnomAD
COSV62670831
rs778231539
53V>Fcosmic curated
ExAC
gnomAD
rs77823153953V>IExAC
gnomAD
rs54777817954I>TVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs139790549454I>VgnomAD
rs131366127855E>KTOPMed
gnomAD
COSV62671473
rs1313661278
55E>Qcosmic curated
TOPMed
gnomAD
rs124601185856I>VTOPMed
gnomAD
COSV10072896857I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs128361094157I>RTOPMed
gnomAD
COSV62670769
rs1283610941
57I>Tcosmic curated
TOPMed
gnomAD
rs78141498657I>VExAC
TOPMed
gnomAD
COSV6267069458E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV6267069458E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV62670544
rs2082303322
60N>Icosmic curated
TOPMed
COSV100729058
COSV104415981
rs1217217218
60N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
COSV62670578
rs1484380626
61F>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV100729006
rs751104967
61F>VVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs208230364962D>HEnsembl
rs76989307462D>VExAC
gnomAD
rs208230364962D>YEnsembl
rs125635211263Y>CVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs125635211263Y>FVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs208230389763Y>HEnsembl
rs77591869064L>FExAC
TCGA novel64L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs141815373766K>RTOPMed
gnomAD
rs76890145267E>DExAC
gnomAD
COSV105269693
rs749345722
67E>Qcosmic curated
ExAC
gnomAD
COSV100728996
rs546617152
68M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs208230451168M>KEnsembl
rs139032377368M>VTOPMed
gnomAD
rs208235413569T>ATOPMed
CA10586227
COSV100729018
RCV000239501
rs886037857
70Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar)
Pathogenic (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
VAR_08146470-230QN>del
MC1DN29; loss of function in complex I assembly (UniProt)
UniProt
rs143195333471N>KTOPMed
rs14224116671N>TESP
ExAC
gnomAD
COSV62670741
rs756614879
72I>Mcosmic curated
ExAC
gnomAD
rs75098440672I>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs15119441872I>VESP
TOPMed
gnomAD
rs208235452473Y>SEnsembl
rs14032734176A>GESP
ExAC
TOPMed
gnomAD
rs121339064076A>PTOPMed
gnomAD
rs121339064076A>TTOPMed
gnomAD
COSV62671246
rs140327341
76A>Vcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs208235503377T>ITOPMed
rs37040835379G>RESP
ExAC
TOPMed
gnomAD
rs167172440880T>STOPMed
RCV001940882
rs1261676471
81T>missingPathogenic (ClinVar)ClinVar
dbSNP
rs77224326281T>IExAC
gnomAD
rs77752573682A>TExAC
gnomAD
rs142451930583G>SVariant of uncertain significance (Ensembl)gnomAD
rs208235537983G>VEnsembl
TCGA novel84F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs53539915586G>R1000Genomes
ExAC
TOPMed
gnomAD
rs53568531887I>TTOPMed
rs116312432387I>VgnomAD
rs759384365
COSV62670753
88F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
gnomAD
NCI-TCGA Cosmic
cosmic curated
rs119298557188F>LLikely benign (Ensembl)TOPMed
gnomAD
rs76943125889S>*ExAC
gnomAD
rs208235589689S>PEnsembl
rs208235600890N>KEnsembl
rs77524481891F>LExAC
gnomAD
rs76368029992L>PExAC
TOPMed
gnomAD
COSV10072906594R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs14990059995R>C1000Genomes
ESP
ExAC
gnomAD
rs76705355295R>HExAC
TOPMed
gnomAD
rs128734404696C>YTOPMed
gnomAD
rs208235656198K>REnsembl
rs2082356644100K>ITOPMed
gnomAD
COSV105269691
rs754254962
101H>Rcosmic curated
ExAC
TOPMed
gnomAD
COSV100729070
rs2082356815
102D>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
rs2153308263103A>GEnsembl
rs2082356915103A>TVariant of uncertain significance (Ensembl)TOPMed
RCV001335007
RCV001780257
RCV001865819
rs752316853
107Y>missing
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
rs765534400107Y>*Likely benign (Ensembl)ExAC
TOPMed
gnomAD
rs147592140107Y>CESP
TOPMed
rs2082357356108A>ETOPMed
rs2082357288108A>TTOPMed
rs752986522110L>FExAC
gnomAD
rs2006646497111A>TTOPMed
gnomAD
rs141929525111A>VVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV002076403
rs539263895
112T>IBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs2082357863113L>FTOPMed
rs2082357919114P>AEnsembl
rs2082357981114P>QEnsembl
rs746862645118T>PExAC
gnomAD
rs2082358081119V>IEnsembl
rs1426230359121T>AEnsembl
rs1165237226122D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs2082358251122D>NEnsembl
rs781172446123K>EExAC
rs2082358470124L>HTOPMed
rs1417787043126V>LTOPMed
gnomAD
RCV001973605
rs745630370
127I>TVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2082358911129A>DTOPMed
TCGA novel129A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs557796872130L>S1000Genomes
ExAC
gnomAD
rs2082359013131Y>CEnsembl
rs2082359064132S>PEnsembl
rs777238614133D>GExAC
gnomAD
CA6212478
RCV000239580
RCV002284385
rs573006534
133D>N
Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
TOPMed
dbSNP
gnomAD
CA10581565
RCV000239553
RCV000240613
rs886037835
134N>missing
Mitochondrial disease (ClinVar)
Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
dbSNP
rs927504375135I>TgnomAD
rs760127259135I>VExAC
gnomAD
rs1565793857136S>CEnsembl
rs765464252138E>DExAC
gnomAD
rs918262592138E>KVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1180285203139N>DgnomAD
rs1380778004139N>IgnomAD
rs1380778004139N>SgnomAD
RCV001824194
RCV002542754
rs747181703
141V>missing
Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar)
Pathogenic (ClinVar)ClinVar
dbSNP
rs775909459141V>IExAC
gnomAD
rs201010232146L>MExAC
TOPMed
gnomAD
rs375039927147I>TVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs767611024150V>FExAC
TOPMed
gnomAD
TCGA novel151C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1268872341151C>YEnsembl
rs1449372843152G>DTOPMed
gnomAD
rs1449372843152G>VTOPMed
gnomAD
rs750292433153V>IExAC
gnomAD
rs1277156035155Y>CgnomAD
rs756088017155Y>HVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs756088017155Y>NVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs145769491156P>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV107444078
RCV001927322
RCV002554191
rs145769491
156P>T
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs753639878158S>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV62671592
rs753639878
158S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs754783644159L>FExAC
gnomAD
RCV002021612
rs768932743
163K>missingVariant of uncertain significance (ClinVar)ClinVar
dbSNP
rs1199572088163K>EgnomAD
rs2153309449165G>AEnsembl
rs2153309449165G>VEnsembl
RCV001940728
RCV004044031
rs370149497
166R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs112358510166R>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs112358510166R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs370149497166R>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs2082387491167L>VEnsembl
rs372220133168A>EESP
TOPMed
gnomAD
COSV62671645
rs2082387556
168A>Tcosmic curated
Ensembl
rs1400714829170K>NgnomAD
rs746574898170K>RExAC
gnomAD
rs2082387956170K>TTEnsembl
rs2082397670173T>ATOPMed
gnomAD
COSV62670998
rs773475165
174V>Icosmic curated
ExAC
TOPMed
gnomAD
rs760763396175P>QExAC
TOPMed
gnomAD
COSV62670585175P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1356867552176L>PTOPMed
gnomAD
rs2082398238176L>VEnsembl
rs533368293177P>LVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1283854569178P>TgnomAD
rs2082398483179K>EEnsembl
rs1591457187180G>EEnsembl
rs1591457190181R>KTOPMed
rs2082398753182V>DgnomAD
rs1565794552185H>PTOPMed
rs1254983131186W>RTOPMed
gnomAD
rs1441616897187M>ITOPMed
gnomAD
rs1185157560187M>VEnsembl
rs759406244188T>KExAC
TOPMed
gnomAD
COSV62671151
rs759406244
188T>Mcosmic curated
ExAC
TOPMed
gnomAD
rs1369382038189L>HgnomAD
rs1369382038189L>PgnomAD
rs2082399577190C>FTOPMed
rs2082399691191Q>HTOPMed
rs758307965193Q>*ExAC
gnomAD
rs2082399980193Q>HTOPMed
gnomAD
rs763814921193Q>RExAC
gnomAD
rs2082400062194M>VTOPMed
rs2082400132196L>*Pathogenic (Ensembl)TOPMed
COSV62671095
RCV001335913
RCV001729850
RCV002546751
rs181963507
197M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Mitochondrial complex I deficiency, nuclear type 1 (ClinVar)
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
VAR_031188
COSV62671130
RCV001522013
rs17850847
198A>V
Benign (Ensembl, ClinVar)UniProt
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs749742466199I>TExAC
TOPMed
gnomAD
rs2082400555201L>VTOPMed
rs1228434592202V>ATOPMed
rs2082400682203F>SEnsembl
rs1282010026204Q>ETOPMed
gnomAD
rs980245038204Q>HEnsembl
rs779439481204Q>RExAC
gnomAD
rs1034625521205I>MTOPMed
gnomAD
rs748493432205I>VExAC
gnomAD
rs778025137206M>KTOPMed
gnomAD
rs772452178206M>LExAC
TOPMed
gnomAD
rs778025137206M>TTOPMed
gnomAD
rs772452178206M>VExAC
TOPMed
gnomAD
rs148346070207F>SESP
ExAC
TOPMed
gnomAD
rs1387038305208G>ETOPMed
gnomAD
COSV62670820
rs1201796267
208G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs549227957209I>TLikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs909501841210L>ITOPMed
gnomAD
TCGA novel210L>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2082401453212G>CEnsembl
VAR_081465
CA6212626
COSV99074303
RCV000239528
RCV000240617
RCV001269887
RCV004017529
rs141542003
212G>V
MC1DN29; decreased function in complex I assembly (UniProt)
Mitochondrial complex I deficiency (ClinVar)
Mitochondrial disease (ClinVar)
Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2082401637213L>VEnsembl
rs184777231214Y>C1000Genomes
ExAC
TOPMed
gnomAD
rs2153309893214Y>HEnsembl
rs2082401939215H>RgnomAD
rs765233284216Y>*ExAC
TOPMed
gnomAD
rs762786611218V>IExAC
gnomAD
rs1402587505222T>IgnomAD
rs764011084223L>PExAC
gnomAD
rs751153059224E>KExAC
gnomAD
rs751153059224E>QExAC
gnomAD
rs949531184225K>ETOPMed
gnomAD
rs1208826391226T>IEnsembl
rs1565794812227I>LEnsembl
rs1391868517227I>TVariant of uncertain significance (Ensembl)gnomAD
rs1565794812227I>VEnsembl
rs1300568573228H>YgnomAD
COSV107444092
RCV001552931
rs146322392
230E>KLikely benign (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1234824356230E>VTOPMed
gnomAD
rs1316935804231*>KgnomAD
rs1196434249231*>LgnomAD
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp