Knowledge base for genomic medicine in Japanese
ロスムンド・トムソン症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000008.10:g.(?_145736809)_(145739655_?)delRECQL4Pathogenic8145736809145739655nanacriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.2464-1G>ARECQL4Pathogenic8145738522145738522CTcriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.3394-1G>CRECQL4Likely pathogenic8145737173145737173CGcriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.2756-1G>ARECQL4Likely pathogenic8145738155145738155CTcriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.2161C>T (p.Arg721Ter)RECQL4Pathogenic8145738994145738994GAcriteria provided, single submitter-
DeletionNM_004260.4(RECQL4):c.1203del (p.Glu401fs)RECQL4Pathogenic8145741203145741203ACAcriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.641C>A (p.Ser214Ter)RECQL4Pathogenic8145741862145741862GTcriteria provided, single submitter-
DeletionNM_004260.4(RECQL4):c.318del (p.Gln107fs)RECQL4Pathogenic8145742470145742470GCGcriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.3025C>T (p.Gln1009Ter)RECQL4Pathogenic8145737805145737805GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004260.4(RECQL4):c.2752G>T (p.Glu918Ter)RECQL4Pathogenic8145738233145738233CAcriteria provided, multiple submitters, no conflicts-