NM_001014436.3(DBNL):c.*2021C>T AND Glycogen storage disease type X
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001924108.3
Allele description [Variation Report for NM_001014436.3(DBNL):c.*2021C>T]
NM_001014436.3(DBNL):c.*2021C>T
Condition(s)
- Name:
- Glycogen storage disease type X (GSD10)
- Synonyms:
- GSD X; PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF; Dimauro disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009865; MedGen: C0268149; Orphanet: 97234; OMIM: 261670
-
sdseggc.vipzxc (0)
BioProject
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024