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1.

rs2037101 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    11:36592691 (GRCh38)
    11:36614241 (GRCh37)
    Canonical SPDI:
    NC_000011.10:36592690:C:A,NC_000011.10:36592690:C:G,NC_000011.10:36592690:C:T
    Gene:
    RAG2 (Varview), IFTAP (Varview)
    Functional Consequence:
    coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000011/1 (ALFA)
    T=0.000002/1 (GnomAD_exomes)
    T=0.00814/7 (HapMap)
    HGVS:
    NC_000011.10:g.36592691C>A, NC_000011.10:g.36592691C>G, NC_000011.10:g.36592691C>T, NC_000011.9:g.36614241C>A, NC_000011.9:g.36614241C>G, NC_000011.9:g.36614241C>T, NG_033154.1:g.3199C>A, NG_033154.1:g.3199C>G, NG_033154.1:g.3199C>T, NG_007573.1:g.10546G>T, NG_007573.1:g.10546G>C, NG_007573.1:g.10546G>A, NM_000536.4:c.1478G>T, NM_000536.4:c.1478G>C, NM_000536.4:c.1478G>A, NM_000536.3:c.1478G>T, NM_000536.3:c.1478G>C, NM_000536.3:c.1478G>A, NM_001243786.2:c.1478G>T, NM_001243786.2:c.1478G>C, NM_001243786.2:c.1478G>A, NM_001243786.1:c.1478G>T, NM_001243786.1:c.1478G>C, NM_001243786.1:c.1478G>A, NM_001243785.2:c.1478G>T, NM_001243785.2:c.1478G>C, NM_001243785.2:c.1478G>A, NM_001243785.1:c.1478G>T, NM_001243785.1:c.1478G>C, NM_001243785.1:c.1478G>A, XM_047427386.1:c.1478G>T, XM_047427386.1:c.1478G>C, XM_047427386.1:c.1478G>A, XM_047427385.1:c.1478G>T, XM_047427385.1:c.1478G>C, XM_047427385.1:c.1478G>A, NP_000527.2:p.Arg493Ile, NP_000527.2:p.Arg493Thr, NP_000527.2:p.Arg493Lys, NP_001230715.1:p.Arg493Ile, NP_001230715.1:p.Arg493Thr, NP_001230715.1:p.Arg493Lys, NP_001230714.1:p.Arg493Ile, NP_001230714.1:p.Arg493Thr, NP_001230714.1:p.Arg493Lys, XP_047283342.1:p.Arg493Ile, XP_047283342.1:p.Arg493Thr, XP_047283342.1:p.Arg493Lys, XP_047283341.1:p.Arg493Ile, XP_047283341.1:p.Arg493Thr, XP_047283341.1:p.Arg493Lys

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