NM_198488.3(FAM83H):c.1872_1873delCC (p.Leu625Alafs) AND Amelogenesis imperfecta, hypocalcification type
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2009
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000000815.3
Allele description
NM_198488.3(FAM83H):c.1872_1873delCC (p.Leu625Alafs)
Condition(s)
- Name:
- Amelogenesis imperfecta, hypocalcification type (AI3)
- Synonyms:
- AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT; AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE; AMELOGENESIS IMPERFECTA, TYPE III, LOCALIZED
- Identifiers:
- MedGen: C0399376; Orphanet: 88661; OMIM: 130900
- Age of onset:
- Infancy
- Prevalence:
- 1-9 / 100 000 88661
Assertion and evidence details
Last Updated: Jul 15, 2017