Hypothesis

2 Matching Annotations

Last 7 days
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

1
1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  HUMU-36-513-s001.zip (35M)GUID: 06D923F1-8EE7-4CA8-96C3-FB1A004ACCF5
  
  Variant not found in the supplemental data even though Mastermind says it is in S002.
  
  NoEvidence SupplementalTable ClinVarID: 2961353 inferred_gene_hgnc:9177 inferred_gene_source:ClinVar UNC Biocuration Core
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Tags

inferred_gene_source:ClinVar

UNC Biocuration Core

ClinVarID: 2961353

SupplementalTable

inferred_gene_hgnc:9177

NoEvidence

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4409520/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

The population genetics of human disease: The case of recessive, lethal mutations

1
1. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  S2 Table: Information on 417 mutations associated with the severe form of lethal, recessive Mendelian diseases. (XLSX)pgen.1006915.s002.xlsx (61K)GUID: 68172932-AFF0-4FB9-A3EA-3B8A4268D8EC
  
  This variant was said to be in table S2 per Mastermind, but it is actually T364M.
  
  SupplementalTable NoEvidence ClinVarID: 2961353 inferred_gene_hgnc:9177 inferred_gene_source:ClinVar UNC Biocuration Core
Visit annotations in context

Tags

inferred_gene_hgnc:9177

UNC Biocuration Core

ClinVarID: 2961353

SupplementalTable

inferred_gene_source:ClinVar

NoEvidence

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5619689/