NM_000039.3(APOA1):c.43+1G>T AND Hereditary spastic paraplegia 50
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2009
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000007774.4
Allele description [Variation Report for NM_000039.3(APOA1):c.43+1G>T]
NM_000039.3(APOA1):c.43+1G>T
Condition(s)
-
bifunctional DNA primase/helicase [Legionella pneumophila]
bifunctional DNA primase/helicase [Legionella pneumophila]gi|506459428|ref|WP_015961328.1|Protein
-
putative AAA ATPase [Trypanosoma theileri]
putative AAA ATPase [Trypanosoma theileri]gi|1624756022|ref|XP_028879792.1|Protein
-
Beta-galactosidase [Fulvia fulva]
Beta-galactosidase [Fulvia fulva]gi|2234814121|ref|XP_047758259.1|Protein
-
LOC4334679 [Oryza sativa Japonica Group]
LOC4334679 [Oryza sativa Japonica Group]Gene ID:4334679Gene
-
Conserved Domain Links for Protein (Select 729990) (2)
Conserved Domains
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024