NM_005502.3(ABCA1):c.3343_3344delTC (p.Ser1115Profs)

Variation ID: Help
9493
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 26, 1999
Number of submission(s):
1
Condition(s):
Tangier disease[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_005502.3(ABCA1):c.3343_3344delTC (p.Ser1115Profs)

Allele ID:
24532
Variant type:
Deletion
Cytogenetic location:
9q31
Genomic location:
  • Chr9: 104818781 - 104818782 (on Assembly GRCh38)
  • Chr9: 107581062 - 107581063 (on Assembly GRCh37)
HGVS:
  • NG_007981.1:g.114374_114375delTC
  • NM_005502.3:c.3343_3344delTC
  • NP_005493.2:p.Ser1115Profs
  • NC_000009.12:g.104818781_104818782delGA (GRCh38)
  • NC_000009.11:g.107581062_107581063delGA (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs387906414
Molecular consequence:
NM_005502.3:c.3343_3344delTC: 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
(Oct 26, 1999)
no assertion criteria providedliterature onlygermlineOMIMSCV000030322.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017