Click here to see the new Variation Report design!

NM_001021.5(RPS17):c.2T>G (p.Met1Arg)

Variation ID: Help
12999
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 25, 2009
Number of submission(s):
2
Condition(s):
Diamond-Blackfan anemia 4[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001021.5(RPS17):c.2T>G (p.Met1Arg)

Allele ID:
28038
Variant type:
single nucleotide variant
Cytogenetic location:
15q25
Genomic location:
  • Chr15: 82540427 (on Assembly GRCh38)
  • Chr15: 82824835 (on Assembly GRCh37)
Protein change:
M1R
HGVS:
  • NG_009890.2:g.5118T>G
  • NM_001021.5:c.2T>G
  • NP_001012.1:p.Met1Arg
  • NC_000015.10:g.82540427A>C (GRCh38)
  • NR_111943.1:n.31T>G
  • NC_000015.9:g.82824835A>C (GRCh37)
  • NG_009890.1:g.4811T>G
  • NM_001021.3:c.2T>G
Links:
NCBI 1000 Genomes Browser:
rs116840811
Molecular consequence:
  • NM_001021.5:c.2T>G: missense variant SO:0001583
  • NR_111943.1:n.31T>G: non-coding transcript variant SO:0001619

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
(Dec 1, 2007)
no assertion criteria providedliterature onlygermlineOMIMSCV000034120.2
Pathogenic
(Jun 25, 2009)
no assertion criteria providedliterature onlynot providedGeneReviewsSCV000055727.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Apr 9, 2018