{% extends "layout.html" %} {% from "variant/buttons.html" import database_buttons %} {% from "utils.html" import activity_panel, comments_panel, pedigree_panel %} {% from "variants/utils.html" import compounds_table %} {% from "variant/utils.html" import causative_button, genes_panel, modal_causative, overlapping_panel, pin_button, proteins_panel, transcripts_panel %} {% from "variant/tx_overview.html" import disease_associated, transcripts_overview %} {% from "variant/gene_disease_relations.html" import autozygosity_panel, genemodels_panel, inheritance_panel, omim_phenotypes %} {% from "variant/variant_details.html" import frequencies, gtcall_panel, old_observations, observations_panel, severity_list, conservations, mappability %} {% from "variant/components.html" import alignments, clinsig_table, compounds_panel, external_links, external_scripts, external_stylesheets, matching_variants, panel_classify, variant_scripts %} {% from "variant/sanger.html" import modal_cancel_sanger, modal_sanger, sanger_button %} {% from "variant/rank_score_results.html" import rankscore_panel %} {% block title %} {{ super() }} - {{ institute.display_name }} - {{ case.display_name }} - {{ variant.display_name }} {% endblock %} {% block css %} {{ super() }} {{ external_stylesheets() }} {% endblock %} {% block top_nav %} {{ super() }}
Position: {{ variant.chromosome }}:{{ variant.position }} | Change: {% if variant.reference|length > 8 %} {{ variant.reference[:1] }}..{{variant.reference[-1:]}} {% else %} {{ variant.reference }} {% endif %} → {%- if variant.alternative|length > 8 -%} {{ variant.alternative[:1] }}..{{variant.alternative[-1:]}} {% else %} {{ variant.alternative }} {% endif %} | ||
Rank {{ variant.variant_rank }} | Rank score {{ variant.rank_score }} | CADD score {% if variant.cadd_score %} {{ variant.cadd_score|round(1) }} {% else %} - {% endif %} | QUAL {% if variant.quality %} {{ variant.quality|int }} {% else %} - {% endif %} |
Matches OMIM inhert.
{% if variant.is_matching_inheritance %}
Yes
{% else %}
No
{% endif %}
|
Frequency
{{ variant.frequency }}
|
MITOMAP associated diseases | {{ variant.mitomap_associated_diseases.split('/')|join(' ')|safe }} |
Gene | Region | Function |
---|---|---|
{{ gene.common.hgnc_symbol if gene.common else gene.hgnc_id }} | {{ gene.region_annotation }} | {{ gene.functional_annotation|truncate(20, True) }} |
Custom annotation | Value | {% for pair in variant.custom %}
---|---|
{{ pair[0] }} | {{ pair[1] }} |