NC_000017.10:g.(?_41052894)_(41053143_?)dup AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003119423.2
Allele description [Variation Report for NC_000017.10:g.(?_41052894)_(41053143_?)dup]
NC_000017.10:g.(?_41052894)_(41053143_?)dup
Condition(s)
- Name:
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA (GSD1A)
- Synonyms:
- GSD Ia; Glycogen storage disease type 1A; Von Gierke disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009287; MedGen: C2919796; Orphanet: 364; Orphanet: 79258; OMIM: 232200
-
Propionibacterium freudenreichii strain FAM14177 D-glycerate dehydrogenase, clas...
Propionibacterium freudenreichii strain FAM14177 D-glycerate dehydrogenase, class II fumarate hydratase (fumC), hypothetical protein, and aspartate ammonia-lyase (aspA) genes, complete cds; anaerobic C4-dicarboxylate transporter (dcuA_1) gene, partial sequence; ISL3-like element ISPfr1 family transposase gene, complete cds; anaerobic C4-dicarboxylate transporter (dcuA_2) gene, partial sequence; aspartate/glutamate racemase family protein gene, complete cds; and MFS transporter gene, partial cdsgi|2220784417|gb|OK490936.1|Nucleotide
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Last Updated: Feb 18, 2023