NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002903277.2
Allele description [Variation Report for NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)]
NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)
Condition(s)
- Name:
- Lower motor neuron syndrome with late-adult onset (SMAJ)
- Synonyms:
- Spinal muscular atrophy, Jokela type
- Identifiers:
- MONDO: MONDO:0014025; MedGen: C3554398; Orphanet: 276435; OMIM: 615048
-
Homo sapiens DNA polymerase delta 1, catalytic subunit (POLD1), transcript varia...
Homo sapiens DNA polymerase delta 1, catalytic subunit (POLD1), transcript variant 3, non-coding RNAgi|1700660572|ref|NR_046402.2|Nucleotide
-
RecName: Full=Retrotransposon Gag-like protein 8C; AltName: Full=Mammalian retro...
RecName: Full=Retrotransposon Gag-like protein 8C; AltName: Full=Mammalian retrotransposon derived protein 8Cgi|160385728|sp|A6ZKI3.1|RTL8C_HUMAProtein
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Last Updated: Feb 28, 2024