NM_005609.4(PYGM):c.2306A>C (p.His769Pro) AND Glycogen storage disease, type V
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002967974.2
Allele description [Variation Report for NM_005609.4(PYGM):c.2306A>C (p.His769Pro)]
NM_005609.4(PYGM):c.2306A>C (p.His769Pro)
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
-
JGI_XZT19295.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7596481 3'...
JGI_XZT19295.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7596481 3', mRNA sequencegi|71580376|gnl|dbEST|30410748|gb|D 24.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024