NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu) AND Bone fragility with contractures, arterial rupture, and deafness
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000761553.2
Allele description [Variation Report for NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu)]
NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu)
Condition(s)
- Name:
- Bone fragility with contractures, arterial rupture, and deafness
- Synonyms:
- LH3 DEFICIENCY; LYSYL HYDROXYLASE 3 DEFICIENCY; BCARD SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012892; MedGen: C2676285; OMIM: 612394
-
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b [Homo sapiens]
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b [Homo sapiens]gi|84452146|ref|NP_001033717.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024