NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg) AND Glycogen storage disease, type VI
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003339941.2
Allele description [Variation Report for NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg)]
NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg)
Condition(s)
- Name:
- Glycogen storage disease, type VI (GSD6)
- Synonyms:
- GSD VI; Glycogen storage disease type 6; Hers disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009294; MedGen: C0017925; Orphanet: 369; OMIM: 232700
-
SYPL1P1 synaptophysin like 1 pseudogene 1 [Homo sapiens]
SYPL1P1 synaptophysin like 1 pseudogene 1 [Homo sapiens]Gene ID:100130011Gene
-
SYPL1P1 AND (alive[prop]) (1)
Gene
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Last Updated: Apr 6, 2024