NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) AND Tangier disease
- 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:
- RCV000318710.5
Allele description [Variation Report for NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)]
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)
Condition(s)
- Name:
- Tangier disease (TGD)
- Synonyms:
- High density lipoprotein deficiency, type 1; High density lipoprotein deficiency, Tangier type; Analphalipo-proteinemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008783; MedGen: C0039292; Orphanet: 31150; OMIM: 205400
Assertion and evidence details
Last Updated: Sep 29, 2024