NM_152564.5(VPS13B):c.8697C>A (p.His2899Gln) AND Cohen syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002030161.5
Allele description [Variation Report for NM_152564.5(VPS13B):c.8697C>A (p.His2899Gln)]
NM_152564.5(VPS13B):c.8697C>A (p.His2899Gln)
Condition(s)
-
PREDICTED: Mastomys coucha nucleoporin 93 (Nup93), transcript variant X1, mRNA
PREDICTED: Mastomys coucha nucleoporin 93 (Nup93), transcript variant X1, mRNAgi|1768026666|ref|XM_031340902.1|Nucleotide
-
optimist (0)
Identical Protein Groups
-
UI-E-EJ0-ahj-l-10-0-UI.s1 UI-E-EJ0 Homo sapiens cDNA clone UI-E-EJ0-ahj-l-10-0-U...
UI-E-EJ0-ahj-l-10-0-UI.s1 UI-E-EJ0 Homo sapiens cDNA clone UI-E-EJ0-ahj-l-10-0-UI 3', mRNA sequencegi|18984167|gnl|dbEST|11255202|gb|B 69.1|Nucleotide
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Last Updated: Sep 29, 2024