variantMTB Individual Report

General

Tier: TIER_ASSIGNED
Reference: BUILD
chr: CHROMOSOME | Pos: POSITION | Ref: REF | Alt: ALT
Strand: STRAND
HGVS: HGVS_NOTATION
Variant Name CIViC: VARIANT_CIVIC
Entrez Name: ENTREZ_NAME (Entrez ID: ENTREZ_ID)
Variant Type: VARIANT_TYPE

Gene: CIViC: CIVIC_GENE | CGI: CGI_GENE

GENE_DESCRIPTION

Variant Information

Pathogenicity: SIFT: SIFT_SCORE PolyPhen2: PolyPhen2_SCORE

Allele Frequency: AF: ALLELE_FREQ gnomAD: GNOMAD_FREQ

Consequence: CGI: CONSEQUENCE_CGI CIViC: CONSEQUENCE_CIVIC

Oncogenicity - CGI: ONCOGENICITY_CGI - Oncogenic Prediction: ONCOGENIC_PREDICTION

ClinVAR Entries: CLINVAR_ENTRIES

Protein Change: PROT_CHANGE

Knowledgebase Annotations

Seen In: CIVIC_CGI_PRESENT (External Annotations CGI: EXT_ANNOS)

CIViC

Linked Diseases: LINKED_DISEASES

Linked Therapies: LINKED_THERAPIES_CIVIC

Evidence:

Learn more about CIViC Evidence Items here

EVIDENCE_LIST

Description: CIVIC_SUMMARY

ASSERTION_DESCRIPTION

EVIDENCE_DESCRIPTION

Literature: LITERATURE_CIVIC

CGI

Linked Therapies

Here we show those drugs that are linked to the Protein Change of this variant in the CGI Knowledgebase.

Linked Therapies responsive: LINKED_DRUGS_RESPONSIVE

Linked Therapies resistant: LINKED_DRUGS_RESISTANT