NM_005609.4(PYGM):c.781G>A (p.Gly261Ser) AND Glycogen storage disease, type V
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003078105.1
Allele description [Variation Report for NM_005609.4(PYGM):c.781G>A (p.Gly261Ser)]
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser)
Condition(s)
- Name:
- Glycogen storage disease, type V (GSD5)
- Synonyms:
- Glycogen storage disease type 5; GSD 5; McArdle disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009293; MedGen: C0017924; Orphanet: 368; OMIM: 232600
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TLX2 T cell leukemia homeobox 2 [Homo sapiens]
TLX2 T cell leukemia homeobox 2 [Homo sapiens]Gene ID:3196Gene
-
Gene Links for GEO Profiles (Select 749236) (1)
Gene
-
NIH_BMAP_DJ2
NIH_BMAP_DJ2biosample
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BioSample links for Nucleotide (Select 20351246) (1)
BioSample
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See more...Assertion and evidence details
Last Updated: Feb 13, 2023