NM_000211.4(ITGB2):c.500-11G>T

NM_000211.4(ITGB2):c.500-11G>T

Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
  • Chr21:44901744 (on Assembly GRCh38)
  • Chr21:46321659 (on Assembly GRCh37)
Other names:
  • IVS5-11G>T
HGVS:
  • NG_007270.2:g.32095G>T
  • NM_000211.4:c.500-11G>T
  • NC_000021.9:g.44901744C>A (GRCh38)
  • LRG_76t1:c.500-11G>T
  • NC_000021.8:g.46321659C>A (GRCh37)
  • LRG_76:g.32095G>T
  • NM_000211.3:c.500-11G>T
Links:
dbSNP: 55865320
NCBI 1000 Genomes Browser:
rs55865320
Molecular consequence:
NM_000211.3:c.500-11G>T: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • GO-ESP 0.18099 (A)
  • GMAF 0.13920 (A)

Clinical significance

NM_000211.4(ITGB2):c.500-11G>T

Clinical significance:
not provided
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion provided
Number of submission(s):
1
Condition(s)
  • Leukocyte adhesion deficiency type 1[MedGen - OMIM]
See supporting ClinVar records

1 Affected gene

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
not providedno assertion providedliterature only
  • Leukocyte adhesion deficiency type 1[MedGen | OMIM]
inheritedGenomic Research Center, Shahid Beheshti University of Medical Sciences

(Feb 26, 2014)

SCV000119980
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Genomic Research Center, Shahid Beheshti University of Medical Sciencesnot providednot providedinheritednot providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
Genomic Research Center, Shahid Beheshti University of Medical Sciencesinheritednot providedLeukocyte adhesion deficiency type 1 (not provided)not providednot providednot providedConverted during submission to not provided.

Last Updated: Jun 27, 2015