AASDH aminoadipate-semialdehyde dehydrogenase

Information
Symbol
AASDH
Type
protein-coding
Description
aminoadipate-semialdehyde dehydrogenase
Entrez Gene ID
132949
Genome
hg19
Position
chr4:57,204,456-57,253,657
Genome
hg38
Position
chr4:56,338,290-56,387,491
MIM
614365 OMIM
HGNC
HGNC:23993 HGNC
Ensembl
ENSG00000157426 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 12
Uncertain significance 0 100
Ranking
ClinVar
0
0
0
114
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 ACSF4
SYNONYM LYS2
SYNONYM NRPS1098
SYNONYM NRPS998
MIM 614365 OMIM
HGNC HGNC:23993 HGNC
Ensembl ENSG00000157426 Ensembl
AllianceGenome HGNC:23993
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000502617.1 hg38 chr4 56,348,928 56,387,500 38,573
ENST00000513376.5 hg38 chr4 56,338,290 56,387,423 49,134
ENST00000205214.11 hg38 chr4 56,338,290 56,387,491 49,202
ENST00000451613.5 hg38 chr4 56,338,287 56,387,508 49,222
ENST00000602986.5 hg38 chr4 56,338,287 56,387,508 49,222
ENST00000451613.5 hg19 chr4 57,204,453 57,253,674 49,222
ENST00000602986.5 hg19 chr4 57,204,453 57,253,674 49,222
ENST00000513376.5 hg19 chr4 57,204,456 57,253,589 49,134
ENST00000205214.11 hg19 chr4 57,204,456 57,253,657 49,202
ENST00000502617.1 hg19 chr4 57,215,094 57,253,666 38,573
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