NM_152564.5(VPS13B):c.11230A>G (p.Ile3744Val) AND Cohen syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002305201.4
Allele description [Variation Report for NM_152564.5(VPS13B):c.11230A>G (p.Ile3744Val)]
NM_152564.5(VPS13B):c.11230A>G (p.Ile3744Val)
Condition(s)
-
Cks85A [Drosophila sechellia]
Cks85A [Drosophila sechellia]Gene ID:6607222Gene
-
Gm26323 AND (alive[prop]) (1)
Gene
-
ST8SIA2 [Oenanthe melanoleuca]
ST8SIA2 [Oenanthe melanoleuca]Gene ID:130257346Gene
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Last Updated: Sep 29, 2024