{% extends "layout_bs4.html" %} {% from "utils.html" import comments_panel, activity_panel, pedigree_panel %} {% from "variants/utils.html" import compounds_table, modal_causative %} {% from "variant/utils.html" import rankscore_panel, overlapping_panel, genes_panel, transcripts_panel, proteins_panel, pin_button, causative_button %} {% from "variant/tx_overview.html" import disease_associated, transcripts_overview %} {% from "variant/gene_disease_relations.html" import omim_phenotypes, inheritance_panel, autozygosity_panel, genemodels_panel %} {% from "variant/variant_details.html" import frequencies, gtcall_panel, observations_panel, old_observations, severity_list, conservations, mappability %} {% from "variant/buttons.html" import variant_tag_button, variant_tier_button, dismiss_variant_button, mosaic_variant_button %} {% block title %} {{ super() }} - {{ institute.display_name }} - {{ case.display_name }} - {{ variant.display_name }} {% endblock %} {% block css %} {{ super() }} {% endblock %} {% block top_nav %} {{ super() }}
Position {{ variant.chromosome }}:{{ variant.position }} {% if variant.is_par %} PAR {% endif %} | 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 -%} |
Repeat locus {{variant.str_repid}} |
Gene | Region | Function |
---|---|---|
{{ gene.common.hgnc_symbol if gene.common else gene.hgnc_id }} | {{ gene.region_annotation }} | {{ gene.functional_annotation|truncate(20, True) }} |
Rank {{ variant.variant_rank }} | Rank score {{ variant.rank_score }} | CADD score {{ variant.cadd_score or '-' }} |
Matches OMIM inhert.
{% if variant.is_matching_inheritance %}
Yes
{% else %}
No
{% endif %}
|
Frequency
{{ variant.frequency }}
|
CLINSIG | Accession | Revstat |
---|---|---|
{{ clinsig.human }} | {{ clinsig.accession }} | {{ clinsig.revstat }} |
Custom annotation | Value | {% for pair in variant.custom %}
---|---|
{{ pair[0] }} | {{ pair[1] }} |