NM_021926.3(ALX4):c.653G>A (p.Arg218Gln)

Variation ID: Help
5015
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Nov 8, 2012
Number of submission(s):
2
Condition(s):
Parietal foramina 2[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_021926.3(ALX4):c.653G>A (p.Arg218Gln)

Allele ID:
20054
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
  • Chr11: 44275472 (on Assembly GRCh38)
  • Chr11: 44297022 (on Assembly GRCh37)
Protein change:
R218Q
HGVS:
  • NG_015809.1:g.39695G>A
  • NM_021926.3:c.653G>A
  • NP_068745.2:p.Arg218Gln
  • NC_000011.10:g.44275472C>T (GRCh38)
  • NC_000011.9:g.44297022C>T (GRCh37)
  • Q9H161:p.Arg218Gln
Links:
  • UniProtKB: Q9H161#VAR_010785
  • OMIM: 605420.0003
  • dbSNP: 104894193
NCBI 1000 Genomes Browser:
rs104894193
Molecular consequence:
NM_021926.3:c.653G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00001 (T)

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
(Feb 1, 2006)
no assertion criteria providedliterature only
  • Parietal foramina 2[MedGen | OMIM]
germlineOMIMSCV000025496.3
Pathogenic
(Nov 8, 2012)
no assertion criteria providedliterature only
  • Parietal foramina 2[MedGen | OMIM]
not providedGeneReviewsSCV000056259.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 10, 2017