NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup) AND GRACILE syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 16, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000674094.1
Allele description [Variation Report for NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup)]
NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup)
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
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eggcsite.comzLO (0)
BioProject
-
Lactiplantibacillus plantarum strain L82 16S ribosomal RNA gene, partial sequenc...
Lactiplantibacillus plantarum strain L82 16S ribosomal RNA gene, partial sequencegi|2126762771|gb|OL314804.1|Nucleotide
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txid694073[Organism:noexp] (5)
Identical Protein Groups
-
txid713923[Organism:noexp] (4)
Nucleotide
-
CDH11 cadherin 11 [Homo sapiens]
CDH11 cadherin 11 [Homo sapiens]Gene ID:1009Gene
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Last Updated: Apr 23, 2022