NM_000146.4(FTL):c.139G>T (p.Gly47Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002037375.6
Allele description [Variation Report for NM_000146.4(FTL):c.139G>T (p.Gly47Cys)]
NM_000146.4(FTL):c.139G>T (p.Gly47Cys)
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
-
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Gloeothece sp. PCC 6909 acetyl-CoA-acetyltransferase (phaA) gene, complete cdsgi|829624541|gb|KR231686.1|Nucleotide
-
BP686492 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
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Last Updated: Sep 29, 2024