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)
single nucleotide variantNM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)SERPINA1Pathogenic/Likely pathogenic149484486594844865GAcriteria provided, multiple submitters, no conflictsClinGen:CA127662,UniProtKB:P01009#VAR_007009,OMIM:107400.0014
single nucleotide variantNM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)SERPINA1Pathogenic/Likely pathogenic149484938194849381AGcriteria provided, multiple submitters, no conflictsClinGen:CA127686,UniProtKB:P01009#VAR_006982,OMIM:107400.0016
single nucleotide variantNM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)SERPINA1Pathogenic/Likely pathogenic149484938894849388GAcriteria provided, multiple submitters, no conflictsClinGen:CA325650,UniProtKB:P01009#VAR_006981,OMIM:107400.0018,ClinVar:219354
DeletionNM_000295.5(SERPINA1):c.552del (p.Asp183_Tyr184insTer)SERPINA1Pathogenic149484902394849023CGCcriteria provided, single submitterClinGen:CA127692,OMIM:107400.0020
single nucleotide variantNM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)SERPINA1Pathogenic/Likely pathogenic149484740494847404TAcriteria provided, multiple submitters, no conflictsClinGen:CA127693,OMIM:107400.0021
single nucleotide variantNM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)SERPINA1Pathogenic149484934594849345GAcriteria provided, single submitterClinGen:CA127738,UniProtKB:P01009#VAR_006985,OMIM:107400.0039
DuplicationNM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)SERPINA1Pathogenic/Likely pathogenic149484488494844885CCGcriteria provided, multiple submitters, no conflictsClinGen:CA274031,ClinVar:626305
single nucleotide variantNM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)SERPINA1Likely pathogenic149484738094847380CGcriteria provided, single submitterClinGen:CA274265
single nucleotide variantNM_000295.5(SERPINA1):c.646+1G>TSERPINA1Pathogenic/Likely pathogenic149484892894848928CAcriteria provided, multiple submitters, no conflictsClinGen:CA274333,OMIM:107400.0038
single nucleotide variantNM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)SERPINA1Pathogenic/Likely pathogenic149484902394849023GCcriteria provided, multiple submitters, no conflictsClinGen:CA274042