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NM_000112.3(SLC26A2):c.47C>G (p.Ser16Ter)

Variation ID: Help
56024
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Number of submission(s):
1
Condition(s):
Diastrophic dysplasia[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000112.3(SLC26A2):c.47C>G (p.Ser16Ter)

Allele ID:
70663
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
  • Chr5: 149977699 (on Assembly GRCh38)
  • Chr5: 149357262 (on Assembly GRCh37)
Protein change:
S16*
HGVS:
  • NG_007147.2:g.18817C>G
  • NM_000112.3:c.47C>G
  • NP_000103.2:p.Ser16Ter
  • NC_000005.10:g.149977699C>G (GRCh38)
  • LRG_684t1:c.47C>G
  • NC_000005.9:g.149357262C>G (GRCh37)
  • LRG_684p1:p.Ser16Ter
  • LRG_684:g.18817C>G
Links:
NCBI 1000 Genomes Browser:
rs386833505
Molecular consequence:
NM_000112.3:c.47C>G: nonsense [Sequence Ontology SO:0001587]

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
Likely pathogenicno assertion criteria providedliterature onlynot providedJuha Muilu Group; Institute for Molecular Medicine Finland (FIMM)SCV000081866.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)not providednot providednot providednot providednot providedConverted during submission to…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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