NM_002036.3(ACKR1):c.286_299delTGGCCTGTCCTGGC (p.Trp96Thrfs)

Variation ID: Help
18397
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Apr 1, 2000
Number of submission(s):
1
Condition(s):
DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE
See supporting ClinVar records

Allele(s) Help

NM_002036.3(ACKR1):c.286_299delTGGCCTGTCCTGGC (p.Trp96Thrfs)

Allele ID:
33436
Variant type:
Deletion
Cytogenetic location:
1q23.2
Genomic location:
  • Chr1: 159205725 - 159205738 (on Assembly GRCh38)
  • Chr1: 159175515 - 159175528 (on Assembly GRCh37)
Other names:
  • ACKR1, 14-BP DEL, NT286
HGVS:
  • NG_011626.1:g.6006_6019delTGGCCTGTCCTGGC
  • NM_001122951.2:c.292_305delTGGCCTGTCCTGGC
  • NM_002036.3:c.286_299delTGGCCTGTCCTGGC
  • NC_000001.11:g.159205725_159205738delTGGCCTGTCCTGGC (GRCh38)
  • NP_001116423.1:p.Trp98Thrfs
  • NP_002027.2:p.Trp96Thrfs
  • NC_000001.10:g.159175515_159175528delTGGCCTGTCCTGGC (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs587776507
Molecular consequence:
NM_002036.3:c.286_299delTGGCCTGTCCTGGC: frameshift variant [Sequence Ontology SO:0001589]

1 Affected gene

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
(Apr 1, 2000)
no assertion criteria providedliterature only
  • DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE
germlineOMIMSCV000020153.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jul 19, 2016