Knowledge base for genomic medicine in Japanese
先天性第V因子欠乏症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000130.4(F5):c.5189A>G (p.Tyr1730Cys)F5Pathogenic1169500043169500043TCcriteria provided, single submitterOMIM Allelic Variant:612309.0007,UniProtKB (protein):P12259#VAR_032700
single nucleotide variantNM_000130.4(F5):c.6304C>T (p.Arg2102Cys)F5Likely pathogenic1169487691169487691GAcriteria provided, single submitterOMIM Allelic Variant:612309.0012,UniProtKB (protein):P12259#VAR_032701
single nucleotide variantNM_000130.4(F5):c.2218C>T (p.Arg740Ter)F5Likely pathogenic1169512110169512110GAcriteria provided, single submitter-
duplicationNM_000130.4(F5):c.5037dup (p.Ser1680fs)F5Pathogenic1169500194169500195AATcriteria provided, single submitter-
duplicationNM_000130.4(F5):c.5403dup (p.Ser1802fs)F5Likely pathogenic1169498861169498862AATcriteria provided, single submitter-
deletionNM_000130.4(F5):c.2862del (p.Ser955fs)F5Likely pathogenic1169511466169511466TATcriteria provided, single submitter-
deletionNM_000130.4(F5):c.2539del (p.Ile847fs)F5Likely pathogenic1169511789169511789ATAcriteria provided, single submitter-
deletionNM_000130.4(F5):c.3170_3174del (p.Asn1057fs)F5Likely pathogenic1169511154169511158ATGTGTAcriteria provided, single submitter-
single nucleotide variantNM_000130.4(F5):c.5408A>G (p.His1803Arg)F5Likely pathogenic1169498857169498857TCcriteria provided, single submitter-
single nucleotide variantNM_000130.4(F5):c.5365C>T (p.Arg1789Ter)F5Pathogenic1169498900169498900GAcriteria provided, single submitter-