FB2024_03 , released June 25, 2024
FB2024_03 , released June 25, 2024
CV Term Report
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General Information
Term protein_altering_variant ID (Ontology) SO:0001818 (Sequence Ontology)
Definition A sequence_variant which is predicted to change the protein encoded in the coding sequence.
Also Known As "protein altering variant" ; "VEP:protein_altering_variant"
Comment
Links to Extrernal Ontologies
SO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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 Alleles
 protein_altering_variant (all annotations which use CV term, excluding "NOT" statements)      29
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exon_variant_______________
coding_transcript_variant__|
                           coding_sequence_variant
                            |__protein_altering_variant  14197 rec.
                                |__frameshift_variant 104 rec.
                                |   |__frame_restoring_variant 1 rec.
                                |   |__frameshift_elongation 2 rec.
                                |   |__frameshift_truncation 43 rec.
                                |   |__frameshift_variant_NMD_escaping
                                |   |__frameshift_variant_NMD_triggering
                                |   |__minus_1_frameshift_variant 1 rec.
                                |   |__minus_2_frameshift_variant
                                |   |__plus_1_frameshift_variant 1 rec.
                                |   |__plus_2_frameshift_variant
                                |__inframe_variant 14068 rec.
                                    |__incomplete_terminal_codon_variant
                                    |__inframe_indel(+) 5982 rec.
                                    |__nonsynonymous_variant(+) 8542 rec.
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Is a coding_sequence_variant
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Synonyms
  • "protein altering variant" EXACT
    "VEP:protein_altering_variant" EXACT VAR
Secondary IDs
hide External Crossreferences & Linkouts
http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences