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Select item 1219183071.

rs121918307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102212829 (GRCh38)
8:103225057 (GRCh37)
Canonical SPDI:: NC_000008.11:102212828:G:A
Gene:: RRM2B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002092/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000009/1 (ExAC)
HGVS:: NC_000008.11:g.102212829G>A, NC_000008.10:g.103225057G>A, NG_016617.1:g.31290C>T, NM_015713.5:c.850C>T, NM_015713.4:c.850C>T, NM_001172478.2:c.694C>T, NM_001172478.1:c.694C>T, NM_001172477.1:c.1066C>T, NP_056528.2:p.Gln284Ter, NP_001165949.1:p.Gln232Ter, NP_001165948.1:p.Gln356Ter

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