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NM_003002.3(SDHD):c.191_192delTC (p.Leu64Profs)

Variation ID: Help
6904
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_003002.3(SDHD):c.191_192delTC (p.Leu64Profs)

Allele ID:
21943
Variant type:
Deletion
Cytogenetic location:
11q23.1
Genomic location:
  • Chr11: 112088888 - 112088889 (on Assembly GRCh38)
  • Chr11: 111959612 - 111959613 (on Assembly GRCh37)
HGVS:
  • NG_012337.3:g.7042_7043delTC
  • NM_001276503.1:c.169+915_169+916delTC
  • NM_003002.3:c.191_192delTC
  • NP_002993.1:p.Leu64Profs
  • NC_000011.10:g.112088888_112088889delTC (GRCh38)
  • NR_077060.1:n.275_276delTC
  • NC_000011.9:g.111959612_111959613delTC (GRCh37)
  • NG_012337.2:g.7042_7043delTC
  • NM_003002.2:c.191_192delTC
Links:
NCBI 1000 Genomes Browser:
rs387906358
Molecular consequence:
  • NM_001276503.1:c.169+915_169+916delTC: intron variant SO:0001627
  • NM_003002.3:c.191_192delTC: frameshift variant SO:0001589
  • NR_077060.1:n.275_276delTC: non-coding transcript variant SO:0001619

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
(Jul 25, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000568556.3
    Pathogenic
    (Jul 1, 2001)
    no assertion criteria providedliterature only
    • Paragangliomas 1 with sensorineural hearing loss[MedGen]
    germlineOMIMSCV000027510.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedThis deletion of two nucleotid…Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Jan 11, 2018