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NM_001080463.1(DYNC2H1):c.8534delA (p.Asn2845Ilefs)

Variation ID: Help
40071
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Apr 1, 2012
Number of submission(s):
1
Condition(s):
Short-rib thoracic dysplasia 3 with or without polydactyly[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001080463.1(DYNC2H1):c.8534delA (p.Asn2845Ilefs)

Allele ID:
48582
Variant type:
Deletion
Cytogenetic location:
11q13.5
Genomic location:
  • Chr11: 103209955 (on Assembly GRCh38)
  • Chr11: 103080684 (on Assembly GRCh37)
HGVS:
  • NM_001080463.1:c.8534delA
  • NP_001073932.1:p.Asn2845Ilefs
  • NC_000011.10:g.103209955delA (GRCh38)
  • NC_000011.9:g.103080684delA (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs431905507
Molecular consequence:
NM_001080463.1:c.8534delA: frameshift variant [Sequence Ontology SO:0001589]

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
(Apr 1, 2012)
no assertion criteria providedliterature only
  • Short-rib thoracic dysplasia 3 with or without polydactyly[MedGen | OMIM]
germlineOMIMSCV000056943.3
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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