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Link to original content: https://www.ncbi.nlm.nih.gov/snp/?term=rs1314283337
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1.

rs1314283337 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    15:33603200 (GRCh38)
    15:33895401 (GRCh37)
    Canonical SPDI:
    NC_000015.10:33603199:A:G
    Gene:
    RYR3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000019/5 (TOPMED)
    G=0.000043/6 (GnomAD)
    HGVS:
    NC_000015.10:g.33603200A>G, NC_000015.9:g.33895401A>G, NG_047076.1:g.297418A>G, NM_001036.6:c.2000A>G, NM_001036.5:c.2000A>G, NM_001036.4:c.2000A>G, NM_001036.3:c.2000A>G, NM_001243996.4:c.2000A>G, NM_001243996.3:c.2000A>G, NM_001243996.2:c.2000A>G, NM_001243996.1:c.2000A>G, XM_017022470.3:c.1997A>G, XM_017022470.2:c.1997A>G, XM_017022470.1:c.1997A>G, XM_011521880.3:c.2000A>G, XM_011521880.2:c.2000A>G, XM_011521880.1:c.2000A>G, XR_001751371.3:n.2079A>G, XR_001751371.2:n.2272A>G, XR_001751371.1:n.2272A>G, XM_017022474.2:c.1979A>G, XM_017022474.1:c.1979A>G, XM_017022468.2:c.2000A>G, XM_017022468.1:c.2000A>G, XM_017022471.2:c.2000A>G, XM_017022471.1:c.2000A>G, XM_017022469.2:c.2000A>G, XM_017022469.1:c.2000A>G, XM_024450015.2:c.2000A>G, XM_024450015.1:c.2000A>G, XM_017022472.2:c.2000A>G, XM_017022472.1:c.2000A>G, XM_024450016.2:c.2000A>G, XM_024450016.1:c.2000A>G, XM_017022473.2:c.2000A>G, XM_017022473.1:c.2000A>G, XM_017022475.2:c.2000A>G, XM_017022475.1:c.2000A>G, XM_017022476.2:c.1892A>G, XM_017022476.1:c.1892A>G, XM_017022477.2:c.2000A>G, XM_017022477.1:c.2000A>G, XR_001751370.2:n.2079A>G, XR_001751370.1:n.2272A>G, XM_047432931.1:c.2000A>G, XM_047432932.1:c.2000A>G, XM_047432933.1:c.2000A>G, NP_001027.3:p.Asp667Gly, NP_001230925.1:p.Asp667Gly, XP_016877959.1:p.Asp666Gly, XP_011520182.1:p.Asp667Gly, XP_016877963.1:p.Asp660Gly, XP_016877957.1:p.Asp667Gly, XP_016877960.1:p.Asp667Gly, XP_016877958.1:p.Asp667Gly, XP_024305783.1:p.Asp667Gly, XP_016877961.1:p.Asp667Gly, XP_024305784.1:p.Asp667Gly, XP_016877962.1:p.Asp667Gly, XP_016877964.1:p.Asp667Gly, XP_016877965.1:p.Asp631Gly, XP_016877966.1:p.Asp667Gly, XP_047288887.1:p.Asp667Gly, XP_047288888.1:p.Asp667Gly, XP_047288889.1:p.Asp667Gly

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