NM_000146.4(FTL):c.375T>C (p.His125=) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003084204.3
Allele description [Variation Report for NM_000146.4(FTL):c.375T>C (p.His125=)]
NM_000146.4(FTL):c.375T>C (p.His125=)
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
Assertion and evidence details
Last Updated: Sep 29, 2024