NM_003005.3(SELP):c.2266A>C (p.Thr756Pro)

Variation ID: Help
13527
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Aug 1, 1998
Number of submission(s):
1
Condition(s):
SELECTIN P POLYMORPHISM
See supporting ClinVar records

Allele(s) Help

NM_003005.3(SELP):c.2266A>C (p.Thr756Pro)

Allele ID:
28566
Variant type:
single nucleotide variant
Cytogenetic location:
1q24
Genomic location:
  • Chr1: 169594713 (on Assembly GRCh38)
  • Chr1: 169563951 (on Assembly GRCh37)
Protein change:
T715P, T756P
HGVS:
  • NG_012125.1:g.40427A>C
  • NM_003005.3:c.2266A>C
  • NP_002996.2:p.Thr756Pro
  • NC_000001.11:g.169594713T>G (GRCh38)
  • NC_000001.10:g.169563951T>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs6136
Molecular consequence:
NM_003005.3:c.2266A>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.07789 (G)
  • GMAF 0.03590 (G)
  • ExAC 0.08208 (G)

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
Benign
(Aug 1, 1998)
no assertion criteria providedliterature only
  • SELECTIN P POLYMORPHISM
germlineOMIMSCV000034733.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 4, 2017