Knowledge base for genomic medicine in Japanese
ドーパ反応性ジストニア(瀬川病)
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000161.3(GCH1):c.13_19del (p.Pro5fs)GCH1Likely pathogenic145536936355369369CGCACAGGCcriteria provided, single submitterClinGen:CA658658257
single nucleotide variantNM_000161.3(GCH1):c.626+1G>TGCH1Pathogenic145531248555312485CAcriteria provided, multiple submitters, no conflictsClinGen:CA389787259
single nucleotide variantNM_000161.3(GCH1):c.510-1G>CGCH1Pathogenic145531384955313849CGcriteria provided, single submitterClinGen:CA389787519
single nucleotide variantNM_000161.3(GCH1):c.541+1G>CGCH1Pathogenic145531381655313816CGcriteria provided, single submitterClinGen:CA389787441
DeletionNC_000014.9:g.(?_54865307)_(54865456_?)delGCH1Pathogenic145533202555332174nanacriteria provided, single submitter-
single nucleotide variantNM_000161.3(GCH1):c.344-1G>CGCH1Pathogenic145533215555332155CGcriteria provided, single submitterClinGen:CA389790329
DuplicationNM_000161.3(GCH1):c.278dup (p.Thr94fs)GCH1Pathogenic145536910355369104CCTcriteria provided, single submitterClinGen:CA658658256
single nucleotide variantNM_000161.3(GCH1):c.1A>T (p.Met1Leu)GCH1Pathogenic145536938155369381TAcriteria provided, single submitterClinGen:CA389795046
single nucleotide variantNM_000161.3(GCH1):c.541+1G>TGCH1Pathogenic145531381655313816CAcriteria provided, multiple submitters, no conflictsClinGen:CA389787439
single nucleotide variantNM_000161.3(GCH1):c.274C>A (p.Leu92Ile)GCH1Likely pathogenic145536910855369108GTcriteria provided, single submitterClinGen:CA7193645