NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) AND Ciliary dyskinesia, primary, 3

Clinical significance:Uncertain significance (Last evaluated: Feb 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672878.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)]

NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)
HGVS:
  • NC_000005.10:g.13810137G>A
  • NG_013081.2:g.139344C>T
  • NM_001369.2:c.7531C>T
  • NM_001369.3:c.7531C>TMANE SELECT
  • NP_001360.1:p.Arg2511Trp
  • NP_001360.1:p.Arg2511Trp
  • NC_000005.9:g.13810246G>A
  • NC_000005.9:g.13810246G>A
Protein change:
R2511W
Links:
dbSNP: rs564040169
NCBI 1000 Genomes Browser:
rs564040169
Molecular consequence:
  • NM_001369.2:c.7531C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369.3:c.7531C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ciliary dyskinesia, primary, 3 (CILD3)
Identifiers:
MONDO: MONDO:0012085; MedGen: C1837618; Orphanet: 244; OMIM: 608644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000798027Counsylcriteria provided, single submitter
Uncertain significance
(Feb 20, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000798027.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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