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 conflictsOMIM Allelic Variant:107400.0014,UniProtKB (protein):P01009#VAR_007009
single nucleotide variantNM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)SERPINA1Pathogenic/Likely pathogenic149484938194849381AGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:107400.0016,UniProtKB (protein):P01009#VAR_006982
single nucleotide variantNM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)SERPINA1Pathogenic/Likely pathogenic149484938894849388GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:107400.0018,UniProtKB (protein):P01009#VAR_006981
single nucleotide variantNM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)SERPINA1Pathogenic/Likely pathogenic149484740494847404TAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:107400.0021
single nucleotide variantNM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)SERPINA1Pathogenic149484934594849345GAcriteria provided, single submitterOMIM Allelic Variant:107400.0039,UniProtKB (protein):P01009#VAR_006985
duplicationNM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)SERPINA1Pathogenic/Likely pathogenic149484488494844885CCGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)SERPINA1Likely pathogenic149484738094847380CGcriteria provided, single submitter-
single nucleotide variantNM_000295.5(SERPINA1):c.646+1G>TSERPINA1Likely pathogenic149484892894848928CAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:107400.0038
single nucleotide variantNM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)SERPINA1Likely pathogenic149484902394849023GCcriteria provided, single submitter-
indelNM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)SERPINA1Pathogenic149484492894844935GCAGCTTCTGTTTTTcriteria provided, multiple submitters, no conflicts-