This chart provides insight into the distribution of the allele frequency for all variants in the Gene

This chart gives the breakdown of all Clinvar Categories for all variants in this Gene The different categories are:

Pathogenic / likely pathogenic

• pathogenic
• risk_factor
• likely_pathogenic
• pathogenic/likely_pathogenic

Benign / likely benign

• benign
• likely_benign
• benign/likely_benign

Uncertain significance / conflicting

• conflicting_interpretations_of_pathogenicity
• uncertain_significance

Other

• not_provided
• drug_response
• likely_risk_allele
• protective
• established_risk_allele
• association_not_found
• other
• affects
• confers_sensitivity

None

• No Significance Recorded

This chart gives the breakdown of all Vep Annotations for all variants in this Gene The different groups are:

pLoF

• stop_gained
• splice_donor_variant
• transcript_ablation
• frameshift_variant
• splice_acceptor_variant

Missense / Inframe indel

• missense_variant
• inframe_deletion
• inframe_insertion
• start_lost
• stop_lost

Synonymous

• synonymous_variant

Regulatory

• upstream_gene_variant
• regulatory_region_variant
• TF_binding_site_variant
• regulatory_region_ablation
• TFBS_ablation

Non-Coding

• intron_variant
• non_coding_transcript_variant
• non_coding_transcript_exon_variant
• intergenic_variant

Coding

• coding_sequence_variant
• protein_altering_variant

Splicing

• splice_polypyrimidine_tract_variant
• splice_region_variant
• splice_donor_region_variant
• splice_donor_5th_base_variant

Other

• downstream_gene_variant
• 3_prime_UTR_variant
• 5_prime_UTR_variant
• NMD_transcript_variant
• stop_retained_variant
• mature_miRNA_variant
• start_retained_variant
• incomplete_terminal_codon_variant

This chart provides information regarding the distribution of variants found within this Gene The total coverage of this Gene is segmented into 100 bins, then for each bin, the total amount of variants found within is bin is tallied

The variants are categorized into 5 different groups, according to their Clinical Significance, each category has its own tally
The breakdown of these groups are found below:

Pathogenic / likely pathogenic

• pathogenic
• risk_factor
• likely_pathogenic
• pathogenic/likely_pathogenic

Benign / likely benign

• benign
• likely_benign
• benign/likely_benign

Uncertain significance / conflicting

• conflicting_interpretations_of_pathogenicity
• uncertain_significance

Other

• not_provided
• drug_response
• likely_risk_allele
• protective
• established_risk_allele
• association_not_found
• other
• affects
• confers_sensitivity

None

• No Significance Recorded

This chart provides information regarding the position, annotation and allele frequency of each of the variants associate with this Gene The location of each annotation is the accurate position of each variant in the Gene
The size of each annotation is determined according to the Allele Frequency of that variant
The color of each annotation is determined according to the Vep Annotation group it belongs to
The breakdown of the Annotation groups is as follows:

pLoF

• stop_gained
• splice_donor_variant
• transcript_ablation
• frameshift_variant
• splice_acceptor_variant

Missense / Inframe indel

• missense_variant
• inframe_deletion
• inframe_insertion
• start_lost
• stop_lost

Synonymous

• synonymous_variant

Regulatory

• upstream_gene_variant
• regulatory_region_variant
• TF_binding_site_variant
• regulatory_region_ablation
• TFBS_ablation

Non-Coding

• intron_variant
• non_coding_transcript_variant
• non_coding_transcript_exon_variant
• intergenic_variant

Coding

• coding_sequence_variant
• protein_altering_variant

Splicing

• splice_polypyrimidine_tract_variant
• splice_region_variant
• splice_donor_region_variant
• splice_donor_5th_base_variant

Other

• downstream_gene_variant
• 3_prime_UTR_variant
• 5_prime_UTR_variant
• NMD_transcript_variant
• stop_retained_variant
• mature_miRNA_variant
• start_retained_variant
• incomplete_terminal_codon_variant