NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter) AND Intellectual disability, autosomal dominant 45
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000496576.2
Allele description [Variation Report for NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter)]
NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter)
Condition(s)
-
type I DNA topoisomerase [Edwardsiella ictaluri]
type I DNA topoisomerase [Edwardsiella ictaluri]gi|2813636287|gnl|PRJNA1101888|AAGU 160|gb|XHQ90250.1|Protein
-
Chain M, DNA-directed RNA polymerase III subunit RPC5
Chain M, DNA-directed RNA polymerase III subunit RPC5gi|2015410984|pdb|7DN3|MProtein
-
Chain D, DNA-directed RNA polymerase III subunit RPC9
Chain D, DNA-directed RNA polymerase III subunit RPC9gi|2015410983|pdb|7DN3|DProtein
-
Chain H, DNA-directed RNA polymerases I, II, and III subunit RPABC3
Chain H, DNA-directed RNA polymerases I, II, and III subunit RPABC3gi|1991455759|pdb|7D59|HProtein
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024