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NM_139025.4(ADAMTS13):c.2851T>G (p.Cys951Gly)

Variation ID: Help
5799
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 4, 2001
Number of submission(s):
1
Condition(s):
Upshaw-Schulman syndrome[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_139025.4(ADAMTS13):c.2851T>G (p.Cys951Gly)

Allele ID:
20838
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
  • Chr9: 133448718 (on Assembly GRCh38)
  • Chr9: 136313839 (on Assembly GRCh37)
Protein change:
C951G
HGVS:
  • NG_011934.2:g.39380T>G
  • NM_139025.4:c.2851T>G
  • NP_620594.1:p.Cys951Gly
  • NC_000009.12:g.133448718T>G (GRCh38)
  • LRG_544t1:c.2851T>G
  • NR_024514.2:n.1686T>G
  • NC_000009.11:g.136313839T>G (GRCh37)
  • NG_011934.1:g.31720T>G
  • NM_139025.3:c.2851T>G
  • Q76LX8:p.Cys951Gly
  • LRG_544p1:p.Cys951Gly
  • LRG_544:g.39380T>G
Links:
NCBI 1000 Genomes Browser:
rs121908468
Molecular consequence:
  • NM_139025.4:c.2851T>G: missense variant SO:0001583
  • NR_024514.2:n.1686T>G: non-coding transcript variant SO:0001619

1 Affected gene

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
Pathogenic
(Oct 4, 2001)
no assertion criteria providedliterature onlygermlineOMIMSCV000026337.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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