NM_000158.4(GBE1):c.783-1G>A AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003764518.2
Allele description [Variation Report for NM_000158.4(GBE1):c.783-1G>A]
NM_000158.4(GBE1):c.783-1G>A
Condition(s)
- Name:
- Glycogen storage disease, type IV (GSD4)
- Synonyms:
- GBE1 DEFICIENCY; GLYCOGENOSIS IV; GSD IV; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009292; MedGen: C0017923; Orphanet: 367; OMIM: 232500
- Name:
- Glycogen storage disease IV, classic hepatic
- Synonyms:
- GSD IV, CLASSIC HEPATIC
- Identifiers:
- MedGen: C1856301
-
Halobacterium salinarum strain KBTZ01 chromosome, complete genome
Halobacterium salinarum strain KBTZ01 chromosome, complete genomegi|2710202410|ref|NZ_CP128377.1|Nucleotide
-
Gm38078 AND (alive[prop]) (0)
Gene
-
NI36_RS01315 [Staphylococcus aureus]
NI36_RS01315 [Staphylococcus aureus]Gene ID:31213083Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024