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NM_017950.3(CCDC40):c.1345C>T (p.Arg449Ter)

Variation ID: Help
31072
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 1, 2011
Number of submission(s):
1
Condition(s):
Ciliary dyskinesia, primary, 15[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_017950.3(CCDC40):c.1345C>T (p.Arg449Ter)

Allele ID:
40029
Variant type:
single nucleotide variant
Cytogenetic location:
17q25
Genomic location:
  • Chr17: 80058885 (on Assembly GRCh38)
  • Chr17: 78032684 (on Assembly GRCh37)
Protein change:
R449*
HGVS:
  • NG_029761.1:g.27254C>T
  • NM_017950.3:c.1345C>T
  • NP_060420.2:p.Arg449Ter
  • NC_000017.11:g.80058885C>T (GRCh38)
  • NC_000017.10:g.78032684C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs387907093
Molecular consequence:
NM_017950.3:c.1345C>T: nonsense [Sequence Ontology SO:0001587]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jan 1, 2011)
no assertion criteria providedliterature onlygermlineOMIMSCV000045357.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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