NM_005609.4(PYGM):c.1769-9T>A AND Glycogen storage disease, type V
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002149851.5
Allele description [Variation Report for NM_005609.4(PYGM):c.1769-9T>A]
NM_005609.4(PYGM):c.1769-9T>A
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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Imaging practice and involvement of the neurosurgical department - Head Injury
Imaging practice and involvement of the neurosurgical department - Head Injury
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K-EST0100384 S11SNU1 Homo sapiens cDNA clone S11SNU1-39-H05 5', mRNA sequence
K-EST0100384 S11SNU1 Homo sapiens cDNA clone S11SNU1-39-H05 5', mRNA sequencegi|19184114|gnl|dbEST|11427779|gb|B 05.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024