NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter) AND Sjögren-Larsson syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 14, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000410260.2
Allele description [Variation Report for NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)]
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)
Condition(s)
- Name:
- Sjögren-Larsson syndrome (SLS)
- Synonyms:
- FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY; Fatty aldehyde dehydrogenase deficiency; FADH deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010031; MedGen: C0037231; Orphanet: 816; OMIM: 270200
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ribonucleoside-diphosphate reductase subunit M2-like [Oryzias latipes]
ribonucleoside-diphosphate reductase subunit M2-like [Oryzias latipes]gi|1343941984|ref|XP_023808654.1|Protein
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Dugbe virus segment S, complete sequence
Dugbe virus segment S, complete sequencegi|22788698|ref|NC_004157.1||gnl|NC NOMES|16602Nucleotide
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HSP90AA1, partial [synthetic construct]
HSP90AA1, partial [synthetic construct]gi|649119365|gb|AIC54589.1|Protein
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hypothetical protein SEA_TYKE_98 [Mycobacterium phage Tyke]
hypothetical protein SEA_TYKE_98 [Mycobacterium phage Tyke]gi|1373057627|gb|AVR77825.1|Protein
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Mus musculus cDNA, clone:Y1G0136H10, strand:minus, reference:ENSEMBL:Mouse-Trans...
Mus musculus cDNA, clone:Y1G0136H10, strand:minus, reference:ENSEMBL:Mouse-Transcript-ENST:ENSMUST00000030134, based on BLAT searchgi|56025109|dbj|AK200932.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2022