Term ID: | 6383 |
Name: | Leukodystrophy, Hypomyelinating, 4 |
Definition: | |
Alternative IDs: | OMIM:612233 |
ParentIDs: | MESH:D020279|MESH:D028361 |
TreeNumbers: | C10.228.140.163.100.362/C567390 |C10.228.140.695.625/C567390 |C10.314.400/C567390 |C10.574.500.494/C567390 |C16.320.400.367/C567390 |C16.320.565.189.362/C567390 |C18.452.132.100.362/C567390 |C18.452.648.189.362/C567390 |C18.452.660/C567390 |
Synonyms: | HLD4 |MITCHAP60 DISEASE |Mitochondrial Hsp60 Chaperonopathy |
Slim Mappings: | Genetic disease (inborn)|Metabolic disease|Nervous system disease |
Reference: |
MedGen: C567390
MeSH: C567390
OMIM: 612233;
Genes: HSPD1; |
Phenotypes | |
Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_199440.1(HSPD1):c.86A>G (p.Asp29Gly) | 3329 | HSPD1 | Pathogenic | 72466451 | RCV000019113; | N | MedGen:C2677109,OMIM:612233,ORPHA:280288 | 2 | 198363487 | 198363487 | NM_199440.1:c.86A>G | NP_955472.1:p.Asp29Gly | NC_000002.11:g.198363487T>C | OMIM Allelic Variant:118190.0002 | C2677109 612233 Leukodystrophy, hypomyelinating, 4 | | |
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