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NM_178170.2(NEK8):c.*578A>C

Variation ID: Help
322500
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Jun 14, 2016
Number of submission(s):
1
Condition(s):
Nephronophthisis[MedGen - Orphanet - OMIM - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_178170.2(NEK8):c.*578A>C

Allele ID:
327919
Variant type:
single nucleotide variant
Cytogenetic location:
17q11.2
Genomic location:
  • Chr17: 28742565 (on Assembly GRCh38)
  • Chr17: 27069583 (on Assembly GRCh37)
HGVS:
  • NG_012263.1:g.18752A>C
  • NM_178170.2:c.*578A>C
  • NC_000017.11:g.28742565A>C (GRCh38)
  • NC_000017.10:g.27069583A>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs185303602
Molecular consequence:
NM_178170.2:c.*578A>C: 3 prime UTR variant [Sequence Ontology SO:0001624]
Allele frequency:
  • 1000 Genomes Project 0.00519 (C)
  • 1000 Genomes Project 0.00519
  • Trans-Omics for Precision Medicine (TOPMed) 0.01443

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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000401560.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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