Knowledge base for genomic medicine in Japanese
副腎白質ジストロフィー
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser)ABCD1Likely pathogenicX153006053153006053CAcriteria provided, single submitter-
single nucleotide variantNM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)ABCD1PathogenicX153002613153002613CTcriteria provided, multiple submitters, no conflictsHGMD:CM950048
single nucleotide variantNM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)ABCD1PathogenicX153005610153005610GAcriteria provided, multiple submitters, no conflictsHGMD:CM940036,UniProtKB (protein):P33897#VAR_000070
single nucleotide variantNM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp)ABCD1Likely pathogenicX153005643153005643GAcriteria provided, single submitterHGMD:CM107839
single nucleotide variantNM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)ABCD1PathogenicX153006072153006072CTcriteria provided, multiple submitters, no conflictsHGMD:CM950052,UniProtKB (protein):P33897#VAR_000075
single nucleotide variantNM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)ABCD1Pathogenic/Likely pathogenicX153006164153006164CTcriteria provided, multiple submitters, no conflictsHGMD:CM993108,UniProtKB (protein):P33897#VAR_009382
single nucleotide variantNM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)ABCD1PathogenicX153008462153008462GAcriteria provided, single submitterHGMD:CM983813
single nucleotide variantNM_000033.4(ABCD1):c.1866-10G>AABCD1Pathogenic/Likely pathogenicX153008665153008665GAcriteria provided, multiple submitters, no conflictsHGMD:CS951342,OMIM Allelic Variant:300371.0004
deletionNM_000033.4(ABCD1):c.31_46del (p.Arg11fs)ABCD1PathogenicX152990752152990767GCGGGGGAACACGCTGAGcriteria provided, single submitter-
single nucleotide variantNM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)ABCD1PathogenicX152991067152991067GAcriteria provided, single submitterHGMD:CM960028,UniProtKB (protein):P33897#VAR_000030