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Select item 1219183111.

rs121918311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:102214157 (GRCh38)
8:103226385 (GRCh37)
Canonical SPDI:: NC_000008.11:102214156:C:A
Gene:: RRM2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000045/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
A=0.000017/2 (ExAC)
HGVS:: NC_000008.11:g.102214157C>A, NC_000008.10:g.103226385C>A, NG_016617.1:g.29962G>T, NM_015713.5:c.686G>T, NM_015713.4:c.686G>T, NM_001172478.2:c.530G>T, NM_001172478.1:c.530G>T, NM_001172477.1:c.902G>T, NP_056528.2:p.Gly229Val, NP_001165949.1:p.Gly177Val, NP_001165948.1:p.Gly301Val

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