Disease associated variation - ClinVar |
Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
76321 | single nucleotide variant | NM_006044.3(HDAC6):c.*282A>T | 398122390 | Gene:100820762,MedGen:C3275476,OMIM:300863,Orphanet:ORPHA163966 | X | 48683304 | 48683304 | A | T |
76321 | single nucleotide variant | NM_006044.3(HDAC6):c.*282A>T | 398122390 | Gene:100820762,MedGen:C3275476,OMIM:300863,Orphanet:ORPHA163966 | X | 48824894 | 48824894 | A | T |
205525 | single nucleotide variant | NM_006044.3(HDAC6):c.1538G>A (p.Arg513His) | 782506012 | Human Phenotype Ontology:HP:0002269,MedGen:CN002060 | X | 48674592 | 48674592 | G | A |
205525 | single nucleotide variant | NM_006044.3(HDAC6):c.1538G>A (p.Arg513His) | 782506012 | Human Phenotype Ontology:HP:0002269,MedGen:CN002060 | X | 48816185 | 48816185 | G | A |