NM_000579.3(CCR5):c.554_585del32 (p.Ser185Ilefs)

Variation ID: Help
8184
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000579.3(CCR5):c.554_585del32 (p.Ser185Ilefs)

Allele ID:
23223
Variant type:
Deletion
Cytogenetic location:
3p21.3
Genomic location:
  • Chr3: 46373456 - 46373487 (on Assembly GRCh38)
  • Chr3: 46414947 - 46414978 (on Assembly GRCh37)
HGVS:
  • NG_012637.1:g.8315_8346del32
  • NM_000579.3:c.554_585del32
  • NP_000570.1:p.Ser185Ilefs
  • NC_000003.12:g.46373456_46373487del32 (GRCh38)
  • NC_000003.11:g.46414947_46414978del32 (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs333
Molecular consequence:
NM_000579.3:c.554_585del32: frameshift variant [Sequence Ontology SO:0001589]

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
protective
(Dec 1, 2008)
no assertion criteria providedliterature only
  • Human immunodeficiency virus type 1, susceptibility to[MedGen | OMIM]
germlineOMIMSCV000028872.2
risk factor
(Dec 1, 2008)
no assertion criteria providedliterature only
  • West nile virus, susceptibility to[MedGen | OMIM]
germlineOMIMSCV000028873.2
protective
(Dec 1, 2008)
no assertion criteria providedliterature only
  • Resistance to hepatitis C virus[MedGen]
germlineOMIMSCV000028874.2
risk factor
(Dec 1, 2008)
no assertion criteria providedliterature only
  • Multiple sclerosis modifier of disease progression[MedGen]
germlineOMIMSCV000028875.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 6, 2016