NM_000518.4(HBB):c.19G>A (p.Glu7Lys)

Variation ID: Help
15126
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000518.4(HBB):c.19G>A (p.Glu7Lys)

Allele ID:
30165
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
  • Chr11: 5227003 (on Assembly GRCh38)
  • Chr11: 5248233 (on Assembly GRCh37)
Protein change:
E6K, E7K
HGVS:
  • NG_000007.3:g.70613G>A
  • NM_000518.4:c.19G>A
  • NP_000509.1:p.Glu7Lys
  • NC_000011.10:g.5227003C>T (GRCh38)
  • NC_000011.9:g.5248233C>T (GRCh37)
  • P68871:p.Glu7Lys
Links:
NCBI 1000 Genomes Browser:
rs33930165
Molecular consequence:
NM_000518.4:c.19G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00554 (T)
  • GMAF 0.00340 (T)

Assertions for related alleles

NM_000518.4(HBB):c.[19G>A;286A>G]

Clinical significance:
other
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
  • HEMOGLOBIN ARLINGTON PARK
See supporting ClinVar records

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
(Sep 15, 2014)
criteria provided, single submitter
clinical testinggermline
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000280895.1
    Pathogenic
    (Sep 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000321759.5
      Pathogenic
      (Jun 27, 2017)
      criteria provided, single submitter
      clinical testinggermline
        ARUP Laboratories, Molecular Genetics and GenomicsSCV000603913.1
        Pathogenic
        (Dec 2, 2011)
        no assertion criteria providedliterature only
        • HEMOGLOBIN C
        germlineOMIMSCV000036552.3
        protective
        (Dec 2, 2011)
        no assertion criteria providedliterature only
        • Malaria, resistance to[MedGen]
        germlineOMIMSCV000036553.3
        Pathogenic
        (Oct 23, 2014)
        no assertion criteria providedliterature onlygermlineGeneReviewsSCV000190689.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot providednot providedgermlinenot providednot provided
        ARUP Laboratories, Molecular Genetics and Genomicsnot providednot providedgermlinenot providednot providednot providednot provided
        Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedgermlinenot providednot providednot providednot provided
        GeneDxnot providednot providedgermlinenot providednot providednot providedThe E7K (also referred to as E…Full description
        GeneReviewsnot providednot providedgermlinenot providednot providednot provided
        OMIMnot providednot providedgermlinenot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Nov 30, 2017