NM_144573.3(NEXN):c.-58T>C

Variation ID: Help
138513
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Feb 24, 2014
Number of submission(s):
1
See supporting ClinVar records

Allele(s) Help

NM_144573.3(NEXN):c.-58T>C

Allele ID:
142216
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
  • Chr1: 77888754 (on Assembly GRCh38)
  • Chr1: 78354439 (on Assembly GRCh37)
HGVS:
  • NG_016625.1:g.5240T>C
  • NM_144573.3:c.-58T>C
  • NC_000001.11:g.77888754T>C (GRCh38)
  • LRG_442t1:c.-58T>C
  • NC_000001.10:g.78354439T>C (GRCh37)
  • LRG_442:g.5240T>C
Links:
dbSNP: 587781100
NCBI 1000 Genomes Browser:
rs587781100
Molecular consequence:
NM_144573.3:c.-58T>C: 5 prime UTR variant [Sequence Ontology SO:0001623]

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
Benign
(Feb 24, 2014)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000170749.9
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Nov 4, 2017