Term ID: | 10505 |
Name: | Spinocerebellar ataxia 26 |
Definition: | |
Alternative IDs: | OMIM:609306 |
ParentIDs: | MESH:D020754 |
TreeNumbers: | C10.228.140.252.190.530/C537203 |C10.228.140.252.700.700/C537203 |C10.228.854.787.875/C537203 |C10.574.500.825.700/C537203 |C10.597.350.090.500.530/C537203 |C16.320.400.780.875/C537203 |
Synonyms: | SCA26 |Spinocerebellar ataxia type 26 |
Slim Mappings: | Genetic disease (inborn)|Nervous system disease |
Reference: |
MedGen: C537203
MeSH: C537203
OMIM: 609306;
Genes: EEF2; |
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_001961.3(EEF2):c.1787C>A (p.Pro596His) | 1938 | EEF2 | Pathogenic | 587777052 | RCV000056312; | N | Gene:408221,MedGen:C1836395,OMIM:609306,ORPHA:101112 | 19 | 3978097 | 3978097 | NM_001961.3:c.1787C>A | NP_001952.1:p.Pro596His | 19:g.3978097G>T | OMIM Allelic Variant:130610.0001 | C1836395 609306 Spinocerebellar ataxia 26 | | |
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