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Variant : CV224818 (NC_000002.12:g.(?_110649261)_(112345017_?)del) Homo sapiens

Symbol: CV224818
Name: NC_000002.12:g.(?_110649261)_(112345017_?)del
Condition: not provided [RCV000208701]
Clinical Significance: likely pathogenic
Last Evaluated: 10/22/2015
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: ACOXL   ACOXL-AS1   ANAPC1   BCL2L11   BUB1   FBLN7   MERTK   MIR4435-2   MIR4435-2HG   MIR4771-2   SNORD132   SOCAR   TMEM87B   ZC3H6   ZC3H8  
Variant Type: deletion (SO:0000159)
Evidence: research
HGVS Name(s): NC_000002.12:g.(?_110649261)_(112345017_?)del
Human AssemblyChrPosition (strand)Source
GRCh382110,649,261 - 112,345,017CLINVAR
GRCh372111,406,838 - 113,102,594CLINVAR
Cytogenetic Map22q13-14.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11050636
Created: 2016-04-12
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.