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NM_000799.3(EPO):c.-1306C>A

Variation ID: Help
16602
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
May 13, 2008
Number of submission(s):
1
Condition(s):
Microvascular complications of diabetes 2[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000799.3(EPO):c.-1306C>A

Allele ID:
31641
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
  • Chr7: 100719675 (on Assembly GRCh38)
  • Chr7: 100317298 (on Assembly GRCh37)
HGVS:
  • NG_021471.2:g.3876C>A
  • NM_000799.3:c.-1306C>A
  • NC_000007.14:g.100719675C>A (GRCh38)
  • NC_000007.13:g.100317298C>A (GRCh37)
  • NG_021471.1:g.3876C>A
  • NM_000799.2:c.-1306C>A
Links:
NCBI 1000 Genomes Browser:
rs1617640
Molecular consequence:
NM_000799.2:c.-1306C>A: 2KB upstream variant [Sequence Ontology SO:0001636]
Allele frequency:
  • 1000 Genomes Project 0.32528 (C)
  • 1000 Genomes Project 0.67472
  • The Genome Aggregation Database (gnomAD) 0.61393
  • Trans-Omics for Precision Medicine (TOPMed) 0.64095

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
risk factor
(May 13, 2008)
no assertion criteria providedliterature only
  • Microvascular complications of diabetes 2[MedGen | OMIM]
germlineOMIMSCV000038352.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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