NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter) AND Ciliary dyskinesia, primary, 7

Clinical significance:Pathogenic (Last evaluated: Sep 15, 2011)

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:
RCV000006847.7

Allele description [Variation Report for NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)]

NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)

Gene:
DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.3
Genomic location:
Preferred name:
NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)
Other names:
R2852*
HGVS:
  • NC_000007.14:g.21748602C>T
  • NG_012886.2:g.210388C>T
  • NM_001277115.2:c.8533C>TMANE SELECT
  • NM_003777.3:c.8554C>T
  • NP_001264044.1:p.Arg2845Ter
  • NC_000007.13:g.21788220C>T
Protein change:
R2845*; ARG2852TER
Links:
OMIM: 603339.0001; dbSNP: rs121908854
NCBI 1000 Genomes Browser:
rs121908854
Molecular consequence:
  • NM_001277115.2:c.8533C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Ciliary dyskinesia, primary, 7 (CILD7)
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS
Identifiers:
MONDO: MONDO:0012748; MedGen: C2678473; Orphanet: 244; OMIM: 611884

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000086901GeneReviewsno assertion criteria providedpathologic
(Sep 15, 2011)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000086901.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2021

Support Center