NM_005198.4(CHKB):c.458dupT (p.Leu153Phefs)

Variation ID: Help
30954
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 10, 2011
Number of submission(s):
1
Condition(s):
Muscular dystrophy, congenital, megaconial type[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_005198.4(CHKB):c.458dupT (p.Leu153Phefs)

Allele ID:
39911
Variant type:
Duplication
Cytogenetic location:
22q13.33
Genomic location:
  • Chr22: 50581543 (on Assembly GRCh38)
  • Chr22: 51019972 (on Assembly GRCh37)
HGVS:
  • NG_029213.1:g.6457dupT
  • NM_005198.4:c.458dupT
  • NC_000022.11:g.50581543dupA (GRCh38)
  • NP_005189.2:p.Leu153Phefs
  • LRG_855t1:c.458dupT
  • NC_000022.10:g.51019972dupA (GRCh37)
  • LRG_855p1:p.Leu153Phefs
  • LRG_855:g.6457dupT
Links:
NCBI 1000 Genomes Browser:
rs786205117
Molecular consequence:
NM_005198.4:c.458dupT: frameshift variant [Sequence Ontology SO:0001589]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jun 10, 2011)
no assertion criteria providedliterature onlygermlineOMIMSCV000045235.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 20, 2016