AFG3L2 AFG3 like matrix AAA peptidase subunit 2

Information
Symbol
AFG3L2
Type
protein-coding
Description
AFG3 like matrix AAA peptidase subunit 2
Entrez Gene ID
10939
Genome
hg19
Position
chr18:12,328,943-12,377,226
Genome
hg38
Position
chr18:12,328,944-12,377,227
MIM
604581 OMIM
HGNC
HGNC:315 HGNC
Ensembl
ENSG00000141385 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 62
Likely pathogenic 0 50
Benign 10 118
Likely benign 0 254
Conflicting classifications of pathogenicity 0 38
no classification for the single variant 0 2
not provided 0 8
Uncertain significance 0 358
Ranking
ClinVar
0
0
186
594
36
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 OPA12
SYNONYM SCA28
SYNONYM SPAX5
MIM 604581 OMIM
HGNC HGNC:315 HGNC
Ensembl ENSG00000141385 Ensembl
AllianceGenome HGNC:315
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000691179.1 hg38 chr18 12,328,957 12,377,109 48,153
ENST00000688199.1 hg38 chr18 12,328,960 12,377,109 48,150
ENST00000269143.8 hg38 chr18 12,328,944 12,377,227 48,284
ENST00000269143.8 hg19 chr18 12,328,943 12,377,226 48,284
ENST00000691179.1 hg19 chr18 12,328,956 12,377,108 48,153
ENST00000688199.1 hg19 chr18 12,328,959 12,377,108 48,150
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