NM_018714.3(COG1):c.1071G>T (p.Met357Ile) AND COG1 congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001044238.7
Allele description [Variation Report for NM_018714.3(COG1):c.1071G>T (p.Met357Ile)]
NM_018714.3(COG1):c.1071G>T (p.Met357Ile)
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
-
Homo sapiens oxoglutarate receptor 1 (OXGR1), transcript variant 2, mRNA
Homo sapiens oxoglutarate receptor 1 (OXGR1), transcript variant 2, mRNAgi|1889586155|ref|NM_001346195.2|Nucleotide
-
2-oxoglutarate receptor 1 isoform X1 [Homo sapiens]
2-oxoglutarate receptor 1 isoform X1 [Homo sapiens]gi|2217294164|ref|XP_047286230.1|Protein
-
Homo sapiens GOLGA2 pseudogene 9 (GOLGA2P9), non-coding RNA
Homo sapiens GOLGA2 pseudogene 9 (GOLGA2P9), non-coding RNAgi|299829235|ref|NR_033899.1|Nucleotide
-
heat shock protein 90, partial [Phytophthora tentaculata]
heat shock protein 90, partial [Phytophthora tentaculata]gi|1524849896|gb|AZG06065.1|Protein
-
heat shock protein 90, partial [Phytophthora vignae]
heat shock protein 90, partial [Phytophthora vignae]gi|1524849912|gb|AZG06073.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024