NM_018389.5(SLC35C1):c.40A>G (p.Met14Val) AND Leukocyte adhesion deficiency type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001362194.6
Allele description [Variation Report for NM_018389.5(SLC35C1):c.40A>G (p.Met14Val)]
NM_018389.5(SLC35C1):c.40A>G (p.Met14Val)
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
-
RecName: Full=RNA pseudouridylate synthase domain-containing protein 1
RecName: Full=RNA pseudouridylate synthase domain-containing protein 1gi|123908280|sp|Q08C69.1|RUSD1_DANRProtein
-
JUN, partial [Homo sapiens]
JUN, partial [Homo sapiens]gi|49456463|emb|CAG46552.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024