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NM_002075.3(GNB3):c.825C>T (p.Ser275=)

Variation ID: Help
226004
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
drug response
Last evaluated:
Jul 11, 2016
Number of submission(s):
1
Condition(s):
sildenafil response - Efficacy[MedGen]
See supporting ClinVar records

Allele(s) Help

NM_002075.3(GNB3):c.825C>T (p.Ser275=)

Allele ID:
227813
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
  • Chr12: 6845711 (on Assembly GRCh38)
  • Chr12: 6954875 (on Assembly GRCh37)
HGVS:
  • NG_009100.1:g.10501C>T
  • NM_002075.3:c.825C>T
  • NP_002066.1:p.Ser275=
  • NC_000012.12:g.6845711C>T (GRCh38)
  • NC_000012.11:g.6954875C>T (GRCh37)
  • NW_003871083.2:g.47295C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs5443
Molecular consequence:
NM_002075.3:c.825C>T: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.49221 (T)
  • 1000 Genomes Project 0.49221
  • Exome Aggregation Consortium (ExAC) 0.35977
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.44979
  • The Genome Aggregation Database (gnomAD) 0.43095
  • The Genome Aggregation Database (gnomAD), exomes 0.35449
  • Trans-Omics for Precision Medicine (TOPMed) 0.46124

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

PGx

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
drug response
(Jul 11, 2016)
reviewed by expert panel
curationCondition: sildenafil response - Efficacy
  • Drug reported used for: Erectile Dysfunction[MedGen]
germlinePharmGKBSCV000268363.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
PharmGKBnot providednot providedgermlinenot providednot providedPharmGKB Level of Evidence 2B:…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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