Knowledge base for genomic medicine in Japanese
低ホスファターゼ症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
single nucleotide variantNM_000478.5(ALPL):c.881A>C (p.Asp294Ala)ALPLPathogenic12190017621900176ACcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:171760.0003,UniProtKB (protein):P05186#VAR_006163
single nucleotide variantNM_000478.5(ALPL):c.620A>C (p.Gln207Pro)ALPLPathogenic12189068121890681ACcriteria provided, single submitterOMIM Allelic Variant:171760.0005,UniProtKB (protein):P05186#VAR_006160
single nucleotide variantNM_000478.4(ALPL):c.571G>A (p.Glu191Lys)ALPLPathogenic/Likely pathogenic12189063221890632GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:171760.0008,UniProtKB (protein):P05186#VAR_006158
single nucleotide variantNM_000478.4(ALPL):c.1133A>T (p.Asp378Val)ALPLPathogenic12190236121902361ATcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:171760.0009,UniProtKB (protein):P05186#VAR_006167
single nucleotide variantNM_000478.5(ALPL):c.535G>A (p.Ala179Thr)ALPLLikely pathogenic12189059621890596GAcriteria provided, single submitterOMIM Allelic Variant:171760.0001,UniProtKB (protein):P05186#VAR_006156
single nucleotide variantNM_000478.5(ALPL):c.211C>T (p.Arg71Cys)ALPLLikely pathogenic12188761921887619CTcriteria provided, single submitterOMIM Allelic Variant:171760.0002,UniProtKB (protein):P05186#VAR_006149
single nucleotide variantNM_000478.4(ALPL):c.1001G>A (p.Gly334Asp)ALPLPathogenic/Likely pathogenic12190222921902229GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:171760.0010,UniProtKB (protein):P05186#VAR_006166
single nucleotide variantNM_000478.4(ALPL):c.979T>C (p.Phe327Leu)ALPLPathogenic/Likely pathogenic12190027421900274TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:171760.0011,UniProtKB (protein):P05186#VAR_006165
deletionNM_000478.5(ALPL):c.1559delT (p.Leu520Argfs)ALPLPathogenic12190412521904125T-criteria provided, multiple submitters, no conflictsOMIM Allelic Variant:171760.0012
single nucleotide variantNM_000478.6(ALPL):c.407G>A (p.Arg136His)ALPLPathogenic/Likely pathogenic12188971221889712GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:171760.0013,UniProtKB (protein):P05186#VAR_006152