Click here to see the new Variation Report design!

NM_005349.3(RBPJ):c.505A>G (p.Lys169Glu)

Variation ID: Help
37054
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 10, 2012
Number of submission(s):
1
Condition(s):
Adams-Oliver syndrome 3[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_005349.3(RBPJ):c.505A>G (p.Lys169Glu)

Allele ID:
45734
Variant type:
single nucleotide variant
Cytogenetic location:
4p15.2
Genomic location:
  • Chr4: 26420695 (on Assembly GRCh38)
  • Chr4: 26422317 (on Assembly GRCh37)
Protein change:
K169E
HGVS:
  • NG_030343.1:g.105986A>G
  • NM_005349.3:c.505A>G
  • NP_005340.2:p.Lys169Glu
  • NC_000004.12:g.26420695A>G (GRCh38)
  • NC_000004.11:g.26422317A>G (GRCh37)
  • Q06330:p.Lys169Glu
Links:
NCBI 1000 Genomes Browser:
rs387907271
Molecular consequence:
NM_005349.3:c.505A>G: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

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
(Aug 10, 2012)
no assertion criteria providedliterature onlygermlineOMIMSCV000053369.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jul 21, 2018