NM_000488.3(SERPINC1):c.506C>T (p.Ser169Phe)

Variation ID: Help
100933
Review status: Help
(0/4) no assertion provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
not provided
Number of submission(s):
1
Condition(s):
Tuberous sclerosis 2[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000488.3(SERPINC1):c.506C>T (p.Ser169Phe)

Allele ID:
106784
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.1
Genomic location:
  • Chr1: 173911917 (on Assembly GRCh38)
  • Chr1: 173881055 (on Assembly GRCh37)
Protein change:
S169F
HGVS:
  • NG_012462.1:g.10462C>T
  • NM_000488.3:c.506C>T
  • NP_000479.1:p.Ser169Phe
  • NC_000001.11:g.173911917G>A (GRCh38)
  • LRG_577t1:c.506C>T
  • NC_000001.10:g.173881055G>A (GRCh37)
  • LRG_577p1:p.Ser169Phe
  • LRG_577:g.10462C>T
Links:
dbSNP: 483352851
NCBI 1000 Genomes Browser:
rs483352851
Molecular consequence:
NM_000488.3:c.506C>T: missense variant [Sequence Ontology SO:0001583]

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
not providedno assertion providedliterature onlynot provided
    Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union HospitalSCV000120149.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospitalnot providednot providednot providednot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Sep 26, 2017