NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter) AND Spondyloepimetaphyseal dysplasia, PAPSS2 type
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003388605.1
Allele description [Variation Report for NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter)]
NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter)
Condition(s)
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vasopressin V1a receptor [Mus musculus]
vasopressin V1a receptor [Mus musculus]gi|33149329|ref|NP_058543.2|Protein
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Adult acute myeloid leukemia: bone marrow and peripheral blood expression profil...
Adult acute myeloid leukemia: bone marrow and peripheral blood expression profiles (SHCO)Accession: GDS841GEO DataSets
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Related DataSets for GEO Profiles (Select 7072748) (1)
GEO DataSets
-
TAFII105-E9 [Homo sapiens]
TAFII105-E9 [Homo sapiens]gi|60250836|gb|AAX14898.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024