NM_001079866.2(BCS1L):c.255_257del (p.Gln85del) AND GRACILE syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000672098.1
Allele description [Variation Report for NM_001079866.2(BCS1L):c.255_257del (p.Gln85del)]
NM_001079866.2(BCS1L):c.255_257del (p.Gln85del)
Condition(s)
- Name:
- GRACILE syndrome (FLNMS)
- Synonyms:
- Finnish lactic acidosis with hepatic hemosiderosis; Fellman syndrome; Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011308; MedGen: C1864002; Orphanet: 53693; OMIM: 603358
-
hypothetical protein Naga_100130g4 [Nannochloropsis gaditana]
hypothetical protein Naga_100130g4 [Nannochloropsis gaditana]gi|585107323|gb|EWM25552.1||gnl|WGS |Naga_100130g4.10555Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024