NM_001369.2(DNAH5):c.5882+133A>G AND Ciliary dyskinesia, primary, 3

Clinical significance:Uncertain significance

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:
RCV000128824.1

Allele description [Variation Report for NM_001369.2(DNAH5):c.5882+133A>G]

NM_001369.2(DNAH5):c.5882+133A>G

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.2(DNAH5):c.5882+133A>G
HGVS:
  • NC_000005.10:g.13839223T>C
  • NG_013081.1:g.110258A>G
  • NG_013081.2:g.110258A>G
  • NM_001369.2:c.5882+133A>G
  • NC_000005.9:g.13839332T>C
Links:
dbSNP: rs530043272
NCBI 1000 Genomes Browser:
rs530043272
Molecular consequence:
  • NM_001369.2:c.5882+133A>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000172484Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) - Mutation analysis on patients with total sperm immotilityno assertion criteria providedUncertain significancegermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeangermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) - Mutation analysis on patients with total sperm immotility, SCV000172484.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Europeannot providednot providednot providedresearchnot provided

Description

Primary Ciliary Dyskinesia

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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