NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001835319.1
Allele description [Variation Report for NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)]
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)
Condition(s)
-
RecName: Full=Macrophage scavenger receptor types I and II; AltName: Full=Macrop...
RecName: Full=Macrophage scavenger receptor types I and II; AltName: Full=Macrophage acetylated LDL receptor I and II; AltName: Full=Scavenger receptor class A member 1; AltName: CD_antigen=CD204gi|127357|sp|P21757.1|MSRE_HUMANProtein
-
Astyanax mexicanus, whole genome shotgun sequence
Astyanax mexicanus, whole genome shotgun sequencegi|480722714|gb|APWO01103619.1||gnl APWO01|Astyanax_mexicanus-1.0.2-10618.53Nucleotide
-
quinone oxidoreductase-like protein 1 [Homo sapiens]
quinone oxidoreductase-like protein 1 [Homo sapiens]gi|90669511|ref|NP_665857.2|Protein
-
quinone oxidoreductase homolog-1 [Homo sapiens]
quinone oxidoreductase homolog-1 [Homo sapiens]gi|4545075|gb|AAD22381.1|Protein
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Last Updated: Sep 29, 2024