ETFRF1 electron transfer flavoprotein regulatory factor 1

Information
Symbol
ETFRF1
Type
protein-coding
Description
electron transfer flavoprotein regulatory factor 1
Entrez Gene ID
144363
Genome
hg19
Position
chr12:25,348,150-25,358,069
Genome
hg38
Position
chr12:25,195,216-25,205,135
HGNC
HGNC:27052 HGNC
Ensembl
ENSG00000205707 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 66
Conflicting classifications of pathogenicity 0 18
not provided 2 0
Uncertain significance 0 62
Ranking
ClinVar
0
0
10
120
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM LYRM5
HGNC HGNC:27052 HGNC
Ensembl ENSG00000205707 Ensembl
AllianceGenome HGNC:27052
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000555711.6 hg38 chr12 25,195,261 25,204,683 9,423
ENST00000556351.6 hg38 chr12 25,195,272 25,204,666 9,395
ENST00000556402.6 hg38 chr12 25,195,277 25,204,732 9,456
ENST00000556927.6 hg38 chr12 25,195,272 25,204,670 9,399
ENST00000553788.6 hg38 chr12 25,195,277 25,209,645 14,369
ENST00000554266.6 hg38 chr12 25,195,270 25,204,172 8,903
ENST00000557540.7 hg38 chr12 25,195,216 25,205,135 9,920
ENST00000381356.9 hg38 chr12 25,195,237 25,205,143 9,907
ENST00000557540.7 hg19 chr12 25,348,150 25,358,069 9,920
ENST00000381356.9 hg19 chr12 25,348,171 25,358,077 9,907
ENST00000555711.6 hg19 chr12 25,348,195 25,357,617 9,423
ENST00000554266.6 hg19 chr12 25,348,204 25,357,106 8,903
ENST00000556351.6 hg19 chr12 25,348,206 25,357,600 9,395
ENST00000556927.6 hg19 chr12 25,348,206 25,357,604 9,399
ENST00000556402.6 hg19 chr12 25,348,211 25,357,666 9,456
ENST00000553788.6 hg19 chr12 25,348,211 25,362,579 14,369
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