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NM_181882.2(PRX):c.586C>T (p.Arg196Ter)

Variation ID: Help
4791
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Feb 15, 2001
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_181882.2(PRX):c.586C>T (p.Arg196Ter)

Allele ID:
19830
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
  • Chr19: 40397766 (on Assembly GRCh38)
  • Chr19: 40903673 (on Assembly GRCh37)
Protein change:
R196*
HGVS:
  • NG_007979.1:g.20599C>T
  • NM_020956.2:c.*791C>T
  • NM_181882.2:c.586C>T
  • NP_870998.2:p.Arg196Ter
  • NC_000019.10:g.40397766G>A (GRCh38)
  • LRG_265t1:c.*791C>T
  • LRG_265t2:c.586C>T
  • NC_000019.9:g.40903673G>A (GRCh37)
  • LRG_265p2:p.Arg196Ter
  • LRG_265:g.20599C>T
Links:
NCBI 1000 Genomes Browser:
rs104894706
Molecular consequence:
  • NM_020956.2:c.*791C>T: 3 prime UTR variant SO:0001624
  • NM_181882.2:c.586C>T: nonsense SO:0001587

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
(Feb 15, 2001)
no assertion criteria providedliterature onlygermlineOMIMSCV000025233.1
Pathogenic
(Feb 15, 2001)
no assertion criteria providedliterature onlygermlineOMIMSCV000025234.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017