Histogram views are shown when there are more than 50 features on a single chromosome. Please click on the histogram to view individual features at that position.

{"SNV":[{"annotated":1,"start":129601217,"chr":"6","contribution":"Uncertain","created":"2015-05-20 09:20:23","assembly":"GRCh37/hg19","genotype":"Heterozygous","confirmed_by":"Sequencing","remapped_from":null,"gene_name":"LAMA2","ref_allele":"C","pathogenicity_percentage":50,"end":129601217,"updated":"2016-07-05 01:14:04","refseq_transcript":"NM_000426.3","validation":"Validated","user_hgvs":null,"id":2472,"vep_category":"Protein Changing","pathogenicity":"Uncertain","public":1,"remap_value":null,"shared":"public","feedback":"Yes","user_transcript":"ENST00000421865","intergenic":0,"ensembl_transcript":"ENST00000421865","vep_consequence":"missense_variant","user_gene":"LAMA2","inheritance":"Maternally inherited, constitutive in mother","original_position":null,"patient_id":267221,"alt_allele":"T","patient_snv_id":2472},{"user_gene":"LAMA2","original_position":null,"inheritance":"Paternally inherited, constitutive in father","patient_snv_id":2473,"alt_allele":"G","patient_id":267221,"vep_category":"Protein Changing","id":2473,"public":1,"pathogenicity":"Uncertain","remap_value":null,"vep_consequence":"missense_variant","ensembl_transcript":"ENST00000421865","intergenic":0,"shared":"public","user_transcript":"ENST00000421865","feedback":"Yes","pathogenicity_percentage":50,"updated":"2016-07-05 01:14:03","end":129762003,"user_hgvs":null,"refseq_transcript":"NM_000426.3","validation":"Validated","created":"2015-05-20 09:20:25","contribution":"Uncertain","assembly":"GRCh37/hg19","chr":"6","start":129762003,"annotated":1,"genotype":"Heterozygous","remapped_from":null,"confirmed_by":"Sequencing","ref_allele":"A","gene_name":"LAMA2"}]}
{"SNV":[{"confirmed_by":"Sequencing","remapped_from":null,"gene_name":"DYRK1A","ref_allele":"G","annotated":1,"start":38862641,"contribution":"Full","assembly":"GRCh37/hg19","created":"2015-05-20 09:20:28","chr":"21","genotype":"Heterozygous","validation":"Validated","refseq_transcript":"NM_130438.2","user_hgvs":null,"pathogenicity_percentage":99,"end":38862641,"updated":"2018-07-23 09:25:53","remap_value":null,"shared":"public","user_transcript":"ENST00000398960","feedback":"Yes","intergenic":0,"ensembl_transcript":"ENST00000398960","vep_consequence":"missense_variant","vep_category":"Protein Changing","id":2474,"pathogenicity":"Pathogenic","public":1,"alt_allele":"C","patient_id":267221,"patient_snv_id":2474,"user_gene":"DYRK1A","inheritance":"De novo constitutive","original_position":null}]}

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