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NM_005807.4(PRG4):c.4190_4191delCCinsAG (p.Ser1397Ter)

Variation ID: Help
5655
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Nov 1, 1999
Number of submission(s):
1
Condition(s):
Camptodactyly arthropathy coxa vara pericarditis syndrome[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_005807.4(PRG4):c.4190_4191delCCinsAG (p.Ser1397Ter)

Allele ID:
20694
Variant type:
Indel
Cytogenetic location:
1q31
Genomic location:
  • Chr1: 186313753 - 186313754 (on Assembly GRCh38)
  • Chr1: 186282885 - 186282886 (on Assembly GRCh37)
HGVS:
  • NG_008248.2:g.22468_22469delCCinsAG
  • NM_005807.4:c.4190_4191delCCinsAG
  • NP_005798.3:p.Ser1397Ter
  • NC_000001.11:g.186313753_186313754delCCinsAG (GRCh38)
  • NC_000001.10:g.186282885_186282886delCCinsAG (GRCh37)
  • NG_008248.1:g.22468_22469delCCinsAG
  • NM_005807.3:c.4190_4191delCCinsAG
  • NP_005798.2:p.Ser1397Ter
Links:
NCBI 1000 Genomes Browser:
rs387906339
Molecular consequence:
NM_005807.4:c.4190_4191delCCinsAG: nonsense [Sequence Ontology 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
(Nov 1, 1999)
no assertion criteria providedliterature onlygermlineOMIMSCV000026191.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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