SDHAF1 succinate dehydrogenase complex assembly factor 1

Information
Symbol
SDHAF1
Type
protein-coding
Description
succinate dehydrogenase complex assembly factor 1
Entrez Gene ID
644096
Genome
hg19
Position
chr19:36,486,090-36,487,214
Genome
hg38
Position
chr19:35,995,188-35,996,312
MIM
612848 OMIM
HGNC
HGNC:33867 HGNC
Ensembl
ENSG00000205138 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 6
Benign 0 8
Likely benign 0 32
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 70
Ranking
ClinVar
0
0
28
86
6
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 LYRM8
SYNONYM MC2DN2
MIM 612848 OMIM
HGNC HGNC:33867 HGNC
Ensembl ENSG00000205138 Ensembl
AllianceGenome HGNC:33867
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000378887.4 hg38 chr19 35,995,188 35,996,312 1,125
ENST00000378887.4 hg19 chr19 36,486,090 36,487,214 1,125
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