NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp) AND Leukocyte adhesion deficiency type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003115099.3
Allele description [Variation Report for NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp)]
NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp)
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
-
UNVERIFIED: Chysis bractescens ribulose-1,5-bisphosphate carboxylase/oxygenase l...
UNVERIFIED: Chysis bractescens ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit-like (rbcL) gene, partial sequence; chloroplastgi|380749766|gb|JN589977.1|Nucleotide
-
cytidine deaminase [Bacteroides fragilis]
cytidine deaminase [Bacteroides fragilis]gi|492345511|ref|WP_005816623.1|Protein
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Last Updated: Sep 1, 2024