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Select item 2676070241.

rs267607024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102224978 (GRCh38)
8:103237206 (GRCh37)
Canonical SPDI:: NC_000008.11:102224977:C:T
Gene:: RRM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.102224978C>T, NC_000008.10:g.103237206C>T, NG_016617.1:g.19141G>A, NM_015713.5:c.362G>A, NM_015713.4:c.362G>A, NM_001172478.2:c.206G>A, NM_001172478.1:c.206G>A, NM_001172477.1:c.578G>A, NP_056528.2:p.Arg121His, NP_001165949.1:p.Arg69His, NP_001165948.1:p.Arg193His

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