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Select item 5157261841.

rs515726184 [Homo sapiens]

Variant type:: DEL
Alleles:: CTC>- [Show Flanks]
Chromosome:: 8:102225984 (GRCh38)
8:103238212 (GRCh37)
Canonical SPDI:: NC_000008.11:102225983:CTC:
Gene:: RRM2B (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Clinical significance:: pathogenic,likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000043/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/1 (ExAC)
-=0.000008/2 (GnomAD_exomes)
-=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.102225984_102225986del, NC_000008.10:g.103238212_103238214del, NG_016617.1:g.18133_18135del, NM_015713.5:c.253_255del, NM_015713.4:c.253_255del, NM_001172478.2:c.97_99del, NM_001172478.1:c.97_99del, NM_001172477.1:c.469_471del, NP_056528.2:p.Glu85del, NP_001165949.1:p.Glu33del, NP_001165948.1:p.Glu157del

dbSNP