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NC_000006.12:g.135105435A>G

Variation ID: Help
132871
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Number of submission(s):
1
Condition(s):
Fetal hemoglobin quantitative trait locus 2[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NC_000006.12:g.135105435A>G

Allele ID:
136620
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
  • Chr6: 135105435 (on Assembly GRCh38)
  • Chr6: 135426573 (on Assembly GRCh37)
HGVS:
  • NC_000006.12:g.135105435A>G (GRCh38)
  • NC_000006.11:g.135426573A>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs4895441
Allele frequency:
  • 1000 Genomes Project 0.17532 (G)
  • 1000 Genomes Project 0.17532
  • The Genome Aggregation Database (gnomAD) 0.22788
  • Trans-Omics for Precision Medicine (TOPMed) 0.20850

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
Likely pathogenicno assertion criteria providedliterature only
  • Fetal hemoglobin quantitative trait locus 2[MedGen | OMIM]
inherited
    Genomic Research Center,Shahid Beheshti University of Medical SciencesSCV000154167.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Genomic Research Center,Shahid Beheshti University of Medical Sciencesnot providednot providedinheritednot providednot providednot providedConverted during submission to…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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