NM_001190787.1(MCIDAS):c.441C>A (p.Cys147Ter) AND Kartagener syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 3, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000190950.1

Allele description [Variation Report for NM_001190787.1(MCIDAS):c.441C>A (p.Cys147Ter)]

NM_001190787.1(MCIDAS):c.441C>A (p.Cys147Ter)

Gene:
MCIDAS:multiciliate differentiation and DNA synthesis associated cell cycle protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q11.2
Genomic location:
Preferred name:
NM_001190787.1(MCIDAS):c.441C>A (p.Cys147Ter)
HGVS:
  • NC_000005.10:g.55222341G>T
  • NM_001190787.1:c.441C>A
  • NP_001177716.1:p.Cys147Ter
  • NC_000005.9:g.54518169G>T
Protein change:
C147*
Links:
dbSNP: rs777031813
NCBI 1000 Genomes Browser:
rs777031813
Molecular consequence:
  • NM_001190787.1:c.441C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Kartagener syndrome (CILD1)
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 1; CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS; IMMOTILE CILIA SYNDROME; See all synonyms [MedGen]
Identifiers:
MedGen: C0022521; Orphanet: 244; OMIM: 244400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000245836GeneReviewsno assertion criteria providedPathogenic
(Sep 3, 2015)
germlineliterature only

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000245836.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 10, 2018