∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000343677 You are here now!NP_005310 You are here now!
Classification of Clinicial Significance of ClinVar Data
Benign Benign Benign, association Benign/Likely benign Benign/Likely benign, Affects Benign/Likely benign, association Benign/Likely benign, drug response Benign/Likely benign, drug response, risk factor Benign/Likely benign, other Benign/Likely benign, protective Benign/Likely benign, protective, risk factor Benign/Likely benign, risk factor Benign, other Benign, risk factor Likely benign Likely benign, drug response, other Likely benign, other Likely benign, risk factor Pathogenic Pathogenic Pathogenic, Affects Pathogenic, association, protective Pathogenic, drug response Pathogenic/Likely pathogenic Pathogenic/Likely pathogenic, drug response Pathogenic/Likely pathogenic, other Pathogenic/Likely pathogenic, risk factor Pathogenic, other Pathogenic, other, risk factor Pathogenic, protective Pathogenic, risk factor Likely pathogenic Likely pathogenic, association Likely pathogenic, drug response Likely pathogenic, other Likely pathogenic, risk factor VUS Uncertain significance Uncertain significance, drug response Uncertain significance, other Uncertain significance, risk factor Conflicting conflicting data from submitters Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity, Affects Conflicting interpretations of pathogenicity, Affects, association, drug response, other Conflicting interpretations of pathogenicity, Affects, association, risk factor Conflicting interpretations of pathogenicity, Affects, other Conflicting interpretations of pathogenicity, association Conflicting interpretations of pathogenicity, association, other, risk factor Conflicting interpretations of pathogenicity, drug response Conflicting interpretations of pathogenicity, other Conflicting interpretations of pathogenicity, other, risk factor Conflicting interpretations of pathogenicity, protective Conflicting interpretations of pathogenicity, risk factor Others drug response drug response, protective, risk factor drug response, risk factor no interpretation for the single variant not provided other Affects Affects, association Affects, risk factor association association, protective association, risk factor protective protective, risk factor risk factor