NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) AND Glycogen storage disease type X
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001163807.12
Allele description [Variation Report for NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)]
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
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
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Homo sapiens transmembrane protein 83 (TMEM83), mRNA
Homo sapiens transmembrane protein 83 (TMEM83), mRNAgi|22748952|ref|NM_152454.1|Nucleotide
-
qs72h01.x1 NCI_CGAP_Pr28 Homo sapiens cDNA clone IMAGE:1943665 3', mRNA sequence
qs72h01.x1 NCI_CGAP_Pr28 Homo sapiens cDNA clone IMAGE:1943665 3', mRNA sequencegi|3750538|gnl|dbEST|1961688|gb|AI1 .1|Nucleotide
-
P.falciparum (isolate V1) S-antigen gene, complete cds. isolate V1
P.falciparum (isolate V1) S-antigen gene, complete cds. isolate V1gi|160064|gb|M19155.1|PFAAGSV1ANucleotide
-
Thaliacea 18S ribosomal RNA gene, partial sequence.
Thaliacea 18S ribosomal RNA gene, partial sequence.PopSet: 317016600PopSet
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txid942551[Organism:noexp] (1)
PopSet
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See more...Assertion and evidence details
Last Updated: May 1, 2024