NM_018389.5(SLC35C1):c.737T>A (p.Leu246His) AND Leukocyte adhesion deficiency type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003612577.1
Allele description [Variation Report for NM_018389.5(SLC35C1):c.737T>A (p.Leu246His)]
NM_018389.5(SLC35C1):c.737T>A (p.Leu246His)
Condition(s)
- Name:
- Leukocyte adhesion deficiency type II
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG IIc; Congenital disorder of glycosylation type 2C; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009953; MedGen: C0398739; Orphanet: 2968; Orphanet: 99843; OMIM: 266265
Assertion and evidence details
Last Updated: Feb 28, 2024