Q9BUE6 · ISCA1_HUMAN

  • Protein
    Iron-sulfur cluster assembly 1 homolog, mitochondrial
  • Gene
    ISCA1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

112910203040506070809010011012050100

Filter Consequence

Filter Provenance

GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7531506122S>AExAC
gnomAD
rs7680388192S>LExAC
TOPMed
gnomAD
rs7531506122S>PExAC
gnomAD
rs7555533693A>GExAC
TOPMed
gnomAD
rs7555533693A>VExAC
TOPMed
gnomAD
rs18255340645L>SEnsembl
rs7668271807R>LExAC
gnomAD
rs7668271807R>QExAC
gnomAD
rs14450118747R>WTOPMed
gnomAD
rs7729241138A>EExAC
gnomAD
rs7625108858A>SExAC
gnomAD
rs7729241138A>VExAC
gnomAD
rs18255337959T>SEnsembl
RCV000857321
rs1587823007
10V>G
Multiple mitochondrial dysfunctions syndrome 5 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs102613826810V>LTOPMed
gnomAD
rs76478378911R>WExAC
TOPMed
gnomAD
rs98779408212A>VTOPMed
gnomAD
rs76143049313V>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs147951699715K>RgnomAD
rs213123045017K>Q1000Genomes
rs120507857519Q>*gnomAD
rs144135161321T>AgnomAD
rs146177814221T>IVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs100732331222R>QgnomAD
rs75652426222R>WExAC
TOPMed
gnomAD
rs130804869723A>EgnomAD
rs122246718325L>RgnomAD
rs95330014426T>ATOPMed
gnomAD
RCV002047657
rs1299255286
26T>NVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs103201762629P>TTOPMed
gnomAD
rs182541135931A>VEnsembl
COSV58182072
rs928507226
32V>Icosmic curated
TOPMed
gnomAD
rs144028100234K>QTOPMed
COSV100276484
COSV100276531
37Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs76372529237Q>EExAC
gnomAD
rs213122423338L>HEnsembl
COSV106421974
rs1333093455
39L>Fcosmic curated
TOPMed
gnomAD
rs133309345539L>VTOPMed
gnomAD
rs182541097841D>HTOPMed
gnomAD
rs182541095242K>EEnsembl
rs105472974243P>HTOPMed
rs105472974243P>LTOPMed
rs123437782044E>KTOPMed
gnomAD
rs138398795745H>QTOPMed
gnomAD
rs129361166545H>YgnomAD
rs182537755846V>LTOPMed
rs144133731053R>*TOPMed
gnomAD
COSV58181299
rs368218180
53R>Qcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs99894074555R>KTOPMed
rs146308740856G>DgnomAD
rs96691924956G>SEnsembl
rs75696567758N>KExAC
gnomAD
rs117696093159G>DVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs75354317960L>HExAC
TOPMed
gnomAD
rs76345380461S>PExAC
rs145226300862Y>CgnomAD
rs139649792565E>AgnomAD
RCV001883577
rs2131222970
68K>TVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs119471396969T>IVariant of uncertain significance (Ensembl)TOPMed
gnomAD
TCGA novel70K>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs75253443772D>GExAC
TOPMed
gnomAD
rs37436904572D>HESP
ExAC
TOPMed
gnomAD
rs137628350473S>FTOPMed
rs119802449674D>GTOPMed
gnomAD
rs182537656074D>HgnomAD
TCGA novel74-79DE>missing
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs76745448376E>VExAC
TOPMed
gnomAD
COSV5818157778I>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs125555240478I>TgnomAD
rs182529134081G>ATOPMed
rs132435947482V>LTOPMed
gnomAD
rs14094467583R>KVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel83R>Q
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs156400792485F>LEnsembl
TCGA novel85F>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV10027646485F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs77667965387E>*Pathogenic (Ensembl)ExAC
gnomAD
VAR_079296
CA5108230
RCV000497255
RCV000508655
rs776679653
87E>K
MMDS5; uncertain significance (UniProt)
Multiple mitochondrial dysfunctions syndrome 5 (ClinVar)
Fatal multiple mitochondrial dysfunctions syndrome (ClinVar)
Pathogenic (Ensembl, ClinVar)UniProt
ClinGen
ClinVar
ExAC
dbSNP
gnomAD
COSV5818128888K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs182529109492L>IgnomAD
rs76434672293T>AExAC
TOPMed
gnomAD
rs146353688493T>IgnomAD
TCGA novel97T>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs117234711998E>*TOPMed
rs117234711998E>QTOPMed
rs77563390198E>VExAC
gnomAD
rs147445043799M>VgnomAD
rs1825290884103E>KTOPMed
rs967582319104D>GTOPMed
rs1024857402105K>QTOPMed
rs200362832105K>RTOPMed
gnomAD
rs535080629106L>IgnomAD
rs772282632106L>SVariant of uncertain significance (Ensembl)ExAC
gnomAD
TCGA novel107S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1825290654110F>LTOPMed
rs202167982113N>S1000Genomes
ExAC
TOPMed
gnomAD
rs202167982113N>T1000Genomes
ExAC
TOPMed
gnomAD
rs1330485870115P>LTOPMed
rs1448853090117I>MTOPMed
gnomAD
COSV58182245
rs755775475
119G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs1034552834121C>WTOPMed
gnomAD
rs1227614510121C>YTOPMed
gnomAD
rs1587816908123C>WEnsembl
rs1825289096123C>YgnomAD
rs1324368522126S>RTOPMed
gnomAD
rs754500672129I>MExAC
gnomAD
rs61747686129I>SEnsembl
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