AFG2B AFG2 AAA ATPase homolog B

Information
Symbol
AFG2B
Type
protein-coding
Description
AFG2 AAA ATPase homolog B
Entrez Gene ID
79029
Genome
hg19
Position
chr15:45,694,534-45,713,613
Genome
hg38
Position
chr15:45,402,336-45,421,415
MIM
619578 OMIM
HGNC
HGNC:28762 HGNC
Ensembl
ENSG00000171763 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 24
Benign 0 14
Likely benign 0 10
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 120
Ranking
ClinVar
0
0
10
158
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 DFNB119
SYNONYM NEDHLS
SYNONYM SPATA5L1
MIM 619578 OMIM
HGNC HGNC:28762 HGNC
Ensembl ENSG00000171763 Ensembl
AllianceGenome HGNC:28762
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000305560.11 hg38 chr15 45,402,336 45,421,415 19,080
ENST00000305560.11 hg19 chr15 45,694,534 45,713,613 19,080
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