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1.

rs121918469 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    12:112488454 (GRCh38)
    12:112926258 (GRCh37)
    Canonical SPDI:
    NC_000012.12:112488453:G:A,NC_000012.12:112488453:G:C,NC_000012.12:112488453:G:T
    Gene:
    PTPN11 (Varview), LOC124903024 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
    Clinical significance:
    pathogenic
    Validated:
    by frequency,by cluster
    MAF:
    C=0./0 (PAGE_STUDY)
    HGVS:
    NC_000012.12:g.112488454G>A, NC_000012.12:g.112488454G>C, NC_000012.12:g.112488454G>T, NC_000012.11:g.112926258G>A, NC_000012.11:g.112926258G>C, NC_000012.11:g.112926258G>T, NG_007459.1:g.74723G>A, NG_007459.1:g.74723G>C, NG_007459.1:g.74723G>T, NM_002834.5:c.1391G>A, NM_002834.5:c.1391G>C, NM_002834.5:c.1391G>T, NM_002834.4:c.1391G>A, NM_002834.4:c.1391G>C, NM_002834.4:c.1391G>T, NM_002834.3:c.1391G>A, NM_002834.3:c.1391G>C, NM_002834.3:c.1391G>T, NM_001330437.2:c.1403G>A, NM_001330437.2:c.1403G>C, NM_001330437.2:c.1403G>T, NM_001330437.1:c.1403G>A, NM_001330437.1:c.1403G>C, NM_001330437.1:c.1403G>T, NM_001374625.1:c.1388G>A, NM_001374625.1:c.1388G>C, NM_001374625.1:c.1388G>T, XM_011538613.3:c.1400G>A, XM_011538613.3:c.1400G>C, XM_011538613.3:c.1400G>T, XM_011538613.2:c.1400G>A, XM_011538613.2:c.1400G>C, XM_011538613.2:c.1400G>T, XM_011538613.1:c.1400G>A, XM_011538613.1:c.1400G>C, XM_011538613.1:c.1400G>T, NP_002825.3:p.Gly464Asp, NP_002825.3:p.Gly464Ala, NP_002825.3:p.Gly464Val, NP_001317366.1:p.Gly468Asp, NP_001317366.1:p.Gly468Ala, NP_001317366.1:p.Gly468Val, NP_001361554.1:p.Gly463Asp, NP_001361554.1:p.Gly463Ala, NP_001361554.1:p.Gly463Val, XP_011536915.1:p.Gly467Asp, XP_011536915.1:p.Gly467Ala, XP_011536915.1:p.Gly467Val

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