NM_018714.3(COG1):c.1139C>T (p.Ala380Val) AND COG1 congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003002583.2
Allele description [Variation Report for NM_018714.3(COG1):c.1139C>T (p.Ala380Val)]
NM_018714.3(COG1):c.1139C>T (p.Ala380Val)
Condition(s)
- Name:
- COG1 congenital disorder of glycosylation (CDG2G)
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG IIg; CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012637; MedGen: C2931011; Orphanet: 263508; OMIM: 611209
-
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X15 [Ca...
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X15 [Callithrix jacchus]gi|1864087498|ref|XP_009000366.3|Protein
-
Homo sapiens chromosome 15, clone RP11-14C10, complete sequence
Homo sapiens chromosome 15, clone RP11-14C10, complete sequencegi|28570491|gnl|WIBR|L11868|gb|AC09 22|Nucleotide
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E3 ubiquitin-protein ligase RNF19A [Homo sapiens]
E3 ubiquitin-protein ligase RNF19A [Homo sapiens]gi|1220029689|ref|NP_001340766.1|Protein
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Last Updated: Sep 29, 2024