Click here to see the new Variation Report design!

NM_018014.3(BCL11A):c.386-24278G>A

Variation ID: Help
127265
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 5[Gene - MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_018014.3(BCL11A):c.386-24278G>A

Allele ID:
132722
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.1
Genomic location:
  • Chr2: 60493111 (on Assembly GRCh38)
  • Chr2: 60720246 (on Assembly GRCh37)
HGVS:
  • NG_011968.1:g.65388G>A
  • NM_018014.3:c.386-24278G>A
  • NC_000002.12:g.60493111C>T (GRCh38)
  • NC_000002.11:g.60720246C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs11886868
Molecular consequence:
NM_018014.3:c.386-24278G>A: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.48323 (T)
  • 1000 Genomes Project 0.48323
  • The Genome Aggregation Database (gnomAD) 0.63963

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
Likely pathogenicno assertion criteria providedliterature onlyinherited
    Genomic Research Center,Shahid Beheshti University of Medical SciencesSCV000148970.1
    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

    Support Center