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Variant : CV73635 (GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1) Homo sapiens

Symbol: CV73635
Name: GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AATBC   ABCG1   ADARB1   AGPAT3   AIRE   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   DOP1B   DSCAM   DSCAM-AS1   DSCAM-IT1   DSCR10   DSCR4   DSCR8   DSCR9   DYRK1A   ERG   ERVH48-1   ETS2   FAM207A   FAM3B   FRGCA   FTCD   GATD3A   GET1   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   LOC400867   LRRC3   LRRC3-DT   LSS   MCM3AP   MCM3AP-AS1   MIR3197   MIR4760   MIR5692B   MIR6070   MIR6508   MIR6814   MIR6815   MIR802   MORC3   MX1   MX2   NDUFV3   PCBP3   PCNT   PCP4   PDE9A   PDXK   PFKL   PICSAR   PIGP   PKNOX1   PLAC4   POFUT2   PRDM15   PRMT2   PSMG1   PTTG1IP   PWP2   RIPK4   RIPPLY3   RRP1   RRP1B   RSPH1   RUNX1   RUNX1-IT1   S100B   SETD4   SH3BGR   SIK1   SIM2   SLC19A1   SLC37A1   SNORA91   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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_35027972)_(46670405_?)del
NC_000021.8:g.(?_36400269)_(48090317_?)del
NC_000021.7:g.(?_35322139)_(46914745_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382135,027,972 - 46,670,405CLINVAR
GRCh372136,400,269 - 48,090,317CLINVAR
Build 362135,322,139 - 46,914,745CLINVAR
Cytogenetic Map2121q22.12-22.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619807
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE



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