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NM_001159772.1(CANT1):c.278delT (p.Leu93Argfs)

Variation ID: Help
195399
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 17, 2015
Number of submission(s):
1
See supporting ClinVar records

Allele(s) Help

NM_001159772.1(CANT1):c.278delT (p.Leu93Argfs)

Allele ID:
192560
Variant type:
Deletion
Cytogenetic location:
17q25.3
Genomic location:
  • Chr17: 78997345 (on Assembly GRCh38)
  • Chr17: 76993427 (on Assembly GRCh37)
HGVS:
  • NP_001153244.1:p.Leu93Argfs
  • NP_620148.1:p.Leu93Argfs
  • NC_000017.11:g.78997345delA (GRCh38)
  • NC_000017.10:g.76993427delA (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs767601069
Molecular consequence:
NM_001159772.1:c.278del: 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
(Mar 17, 2015)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000227548.5
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided2germlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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