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Variant : CV157418 (GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1) Homo sapiens

Symbol: CV157418
Name: GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1
Condition: See cases [RCV000136828]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AATBC   ABCG1   ADARB1   AGPAT3   AIRE   AP000688.1   AP000688.2   AP001042.3   AP001625.3   B3GALT5   B3GALT5-AS1   BACE2   BRWD1   BRWD1-AS1   BRWD1-AS2   C21orf58   C2CD2   CBR1   CBR3   CBR3-AS1   CBS   CFAP410   CHAF1B   CLDN14   COL18A1   COL18A1-AS1   COL18A1-AS2   COL6A1   COL6A2   CRYAA   CSTB   DIP2A   DIP2A-IT1   DNMT3L   DNMT3L-AS1   DOP1B   DSCAM   DSCAM-AS1   DSCAM-IT1   DSCR10   DSCR4   DSCR8   DSCR9   DYRK1A   ERG   ERVH48-1   ETS2   FAM207A   FAM3B   FRGCA   FTCD   FTCD-AS1   GATD3A   GET1   GET1-SH3BGR   H2BS1   HLCS   HMGN1   HSF2BP   ICOSLG   IGSF5   ITGB2   ITGB2-AS1   KCNJ15   KCNJ6   KCNJ6-AS1   KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   LCA5L   LINC00111   LINC00112   LINC00114   LINC00163   LINC00205   LINC00313   LINC00315   LINC00316   LINC00319   LINC00322   LINC00323   LINC00334   LINC00479   LINC01423   LINC01424   LINC01436   LINC01547   LINC01668   LINC01671   LINC01678   LINC01679   LINC01694   LINC01700   LINC02575   LOC400867   LRRC3   LRRC3-DT   LSS   MCM3AP   MCM3AP-AS1   MIR3197   MIR4760   MIR5692B   MIR6070   MIR6508   MIR6814   MIR6815   MIR802   MORC3   MX1   MX2   NDUFV3   PCBP3   PCBP3-AS1   PCNT   PCP4   PCSEAT   PDE9A   PDE9A-AS1   PDXK   PFKL   PICSAR   PIGP   PKNOX1   PLAC4   POFUT2   PRDM15   PRMT2   PSMG1   PTTG1IP   PWP2   RIPK4   RIPPLY3   RRP1   RRP1B   RSPH1   RUNX1   RUNX1   RUNX1-IT1   S100B   SETD4   SETD4-AS1   SH3BGR   SIK1   SIM2   SLC19A1   SLC37A1   SNORA91   SNORD159   SPATC1L   SUMO3   TFF1   TFF2   TFF3   TMPRSS2   TMPRSS3   TRAPPC10   TRPM2   TRPM2-AS   TSPEAR   TSPEAR-AS1   TSPEAR-AS2   TTC3   TTC3-AS1   U2AF1   UBASH3A   UBE2G2   UMODL1   UMODL1-AS1   VPS26C   WDR4   YBEY   ZBTB21   ZNF295-AS1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_34789953)_(46636538_?)del
Human AssemblyChrPosition (strand)Source
GRCh382134,789,953 - 46,636,538CLINVAR
GRCh372136,162,250 - 48,056,450CLINVAR
Build 362135,084,120 - 46,880,878CLINVAR
Cytogenetic Map2121q22.12-22.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9484389
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE


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