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Select item 1219183091.

rs121918309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:102214136 (GRCh38)
8:103226364 (GRCh37)
Canonical SPDI:: NC_000008.11:102214135:C:A
Gene:: RRM2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.102214136C>A, NC_000008.10:g.103226364C>A, NG_016617.1:g.29983G>T, NM_015713.5:c.707G>T, NM_015713.4:c.707G>T, NM_001172478.2:c.551G>T, NM_001172478.1:c.551G>T, NM_001172477.1:c.923G>T, NP_056528.2:p.Cys236Phe, NP_001165949.1:p.Cys184Phe, NP_001165948.1:p.Cys308Phe

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rs121918309 (1)
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