NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487505.2
Allele description [Variation Report for NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val)]
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val)
Condition(s)
- Name:
- Infantile neuroaxonal dystrophy (NBIA2A)
- Synonyms:
- NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; Seitelberger disease; Infantile neuroaxonal dystrophy 1
- Identifiers:
- MONDO: MONDO:0024457; MedGen: C0270724; Orphanet: 35069; OMIM: 256600
- Name:
- Neurodegeneration with brain iron accumulation 2B
- Synonyms:
- NEUROAXONAL DYSTROPHY, ATYPICAL; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED; aNAD; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012444; MedGen: C1857747; Orphanet: 35069; OMIM: 610217
-
hypothetical protein Naga_100120g7 [Nannochloropsis gaditana]
hypothetical protein Naga_100120g7 [Nannochloropsis gaditana]gi|585110427|gb|EWM28084.1||gnl|WGS |Naga_100120g7.6945Protein
-
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Last Updated: Oct 8, 2024