NM_000146.4(FTL):c.263A>G (p.Asp88Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002045829.3
Allele description [Variation Report for NM_000146.4(FTL):c.263A>G (p.Asp88Gly)]
NM_000146.4(FTL):c.263A>G (p.Asp88Gly)
Condition(s)
- Name:
- Hereditary hyperferritinemia with congenital cataracts
- Synonyms:
- Hyperferritinemia cataract syndrome; Hereditary hyperferritinemia cataract syndrome; Bonneau-Beaumont syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010952; MedGen: C1833213; Orphanet: 163; OMIM: 600886
-
txid1590[orgn] AND "isolate UBA4900"[All Fields] (1)
BioSample
-
Uncultivated Lactobacillus plantarum UBA4900 genome recovered from SRX691277
Uncultivated Lactobacillus plantarum UBA4900 genome recovered from SRX691277biosample
-
yeiR [Escherichia coli str. K-12 substr. MG1655]
yeiR [Escherichia coli str. K-12 substr. MG1655]Gene ID:946701Gene
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Last Updated: Mar 5, 2024