NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser) AND Cohen syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002647755.1
Allele description [Variation Report for NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser)]
NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser)
Condition(s)
-
histone H2A type 3 [Homo sapiens]
histone H2A type 3 [Homo sapiens]gi|15617199|ref|NP_254280.1|Protein
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Last Updated: May 19, 2024