NM_152564.5(VPS13B):c.8719A>G (p.Ile2907Val) AND Cohen syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001301859.4
Allele description [Variation Report for NM_152564.5(VPS13B):c.8719A>G (p.Ile2907Val)]
NM_152564.5(VPS13B):c.8719A>G (p.Ile2907Val)
Condition(s)
-
Chromosome neighbors for GEO Profiles (Select 46501763) (20)
GEO Profiles
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PTC6 type 2C protein phosphatase PTC6 [Saccharomyces cerevisiae S288C]
PTC6 type 2C protein phosphatase PTC6 [Saccharomyces cerevisiae S288C]Gene ID:850441Gene
-
Gene Links for GEO Profiles (Select 112463506) (1)
Gene
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asp1 inositol hexakisphosphate kinase/inositol pyrophosphate synthase [Schizosac...
asp1 inositol hexakisphosphate kinase/inositol pyrophosphate synthase [Schizosaccharomyces pombe]Gene ID:2539244Gene
-
Gene Links for GEO Profiles (Select 46500762) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024