NM_000146.4(FTL):c.*131A>T AND Hereditary hyperferritinemia with congenital cataracts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000283858.5
Allele description [Variation Report for NM_000146.4(FTL):c.*131A>T]
NM_000146.4(FTL):c.*131A>T
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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cm62b02.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
cm62b02.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone PBX0161B02 5', mRNA sequencegi|7403687|gnl|dbEST|4082732|gb|AW6 .1|Nucleotide
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Last Updated: Jul 29, 2023