NM_000293.3(PHKB):c.*1311dup AND Glycogen phosphorylase kinase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000296514.5
Allele description [Variation Report for NM_000293.3(PHKB):c.*1311dup]
NM_000293.3(PHKB):c.*1311dup
Condition(s)
- Name:
- Glycogen phosphorylase kinase deficiency
- Synonyms:
- Glycogen Storage Disease Type IX
- Identifiers:
- MedGen: C0268147
-
T24F1.4 [Caenorhabditis elegans]
T24F1.4 [Caenorhabditis elegans]Gene ID:188867Gene
-
Gene Links for GEO Profiles (Select 49784466) (1)
Gene
-
Concise Conserved Domain Links for Protein (Select 1034587772) (0)
Conserved Domains
-
Archaeon DSFBPS_UR2D 16S ribosomal RNA gene, partial sequence
Archaeon DSFBPS_UR2D 16S ribosomal RNA gene, partial sequencegi|451319794|gb|KC465546.1|Nucleotide
-
txid51683[Organism:noexp] (4)
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Last Updated: Apr 9, 2023