NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter) AND Cohen syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002307247.2
Allele description [Variation Report for NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)]
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
Condition(s)
-
AGENCOURT_15065407 NICHD_XGC_Emb7 Xenopus tropicalis cDNA clone IMAGE:6976931 3'...
AGENCOURT_15065407 NICHD_XGC_Emb7 Xenopus tropicalis cDNA clone IMAGE:6976931 3', mRNA sequencegi|33423955|gnl|dbEST|19437092|gb|C 47.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2022