Knowledge base for genomic medicine in Japanese
α1-アンチトリプシン欠乏症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_001127701.1(SERPINA1):c.647-1delGSERPINA1Pathogenic149484747894847478GCGcriteria provided, single submitterClinGen:CA645509533
DeletionNM_000295.5(SERPINA1):c.1158del (p.Glu387fs)SERPINA1Likely pathogenic149484488594844885CGCcriteria provided, single submitterClinGen:CA7327257,LOVD 3:SERPINA1_000014,OMIM:107400.0025
DuplicationNM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)SERPINA1Pathogenic149484491294844913TTAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000295.5(SERPINA1):c.1066-1G>TSERPINA1Likely pathogenic149484497894844978CAcriteria provided, single submitter-
single nucleotide variantNM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)SERPINA1Likely pathogenic149484747194847471CTcriteria provided, single submitter-
single nucleotide variantNM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro)SERPINA1Pathogenic149484729294847292AGcriteria provided, single submitter-
IndelNM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs)SERPINA1Pathogenic149484898994848990AATcriteria provided, single submitter-
single nucleotide variantNM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)SERPINA1Pathogenic149484933194849331CGcriteria provided, single submitter-