NM_002609.4(PDGFRB):c.1456G>A (p.Glu486Lys) AND PDGFRB-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003402822.4
Allele description [Variation Report for NM_002609.4(PDGFRB):c.1456G>A (p.Glu486Lys)]
NM_002609.4(PDGFRB):c.1456G>A (p.Glu486Lys)
Condition(s)
- Name:
- PDGFRB-related disorder
- Synonyms:
- PDGFRB-related condition
- Identifiers:
-
poly(A) binding protein interacting protein 2, isoform CRA_a [Homo sapiens]
poly(A) binding protein interacting protein 2, isoform CRA_a [Homo sapiens]gi|119582512|gb|EAW62108.1||gnl|WGS |hCP1918922Protein
-
Homo sapiens actin gamma 1 (ACTG1), transcript variant 1, mRNA
Homo sapiens actin gamma 1 (ACTG1), transcript variant 1, mRNAgi|1890273663|ref|NM_001199954.3|Nucleotide
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Last Updated: May 19, 2024