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NM_182758.3(WDR72):c.*2592_*2593insTTGT

Variation ID: Help
316531
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):
Amelogenesis Imperfecta, Recessive[MedGen]
See supporting ClinVar records

Allele(s) Help

NM_182758.3(WDR72):c.*2592_*2593insTTGT

Allele ID:
322910
Variant type:
Insertion
Cytogenetic location:
15q21.3
Genomic location:
  • Chr15: 53515106 - 53515107 (on Assembly GRCh38)
  • Chr15: 53807303 - 53807304 (on Assembly GRCh37)
HGVS:
  • NG_017034.2:g.249556_249557insTTGT
  • NM_182758.3:c.*2592_*2593insTTGT
  • NC_000015.10:g.53515106_53515107insACAA (GRCh38)
  • NR_102334.1:n.6141_6142insTTGT
  • NC_000015.9:g.53807303_53807304insACAA (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs5812689
Molecular consequence:
  • NM_182758.3:c.*2592_*2593insTTGT: 3 prime UTR variant SO:0001624
  • NR_102334.1:n.6141_6142insTTGT: non-coding transcript variant SO:0001619
Allele frequency:
1000 Genomes Project 0.36202 (ACACAAA)

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 testing
  • Amelogenesis Imperfecta, Recessive[MedGen]
germline
    Illumina Clinical Services Laboratory,IlluminaSCV000393035.2
    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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