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Variant : CV72433 (GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1) Homo sapiens

Symbol: CV72433
Name: GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1
Condition: Abnormal facial shape [RCV000051578]|See cases [RCV000051578]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADSS1   AHNAK2   AKT1   AMN   ANKRD9   ASPG   ATP5MPL   BAG5   BRF1   BTBD6   C14orf180   CDC42BPB   CDCA4   CEP170B   CINP   CKB   CLBA1   COA8   CRIP1   CRIP2   DYNC1H1   EIF5   EXOC3L4   FAM30A   GPR132   HSP90AA1   IGH   IGHA1   IGHA2   IGHD   IGHD1-1   IGHD1-14   IGHD1-20   IGHD1-26   IGHD1-7   IGHD2-15   IGHD2-2   IGHD2-21   IGHD2-8   IGHD3-10   IGHD3-16   IGHD3-22   IGHD3-3   IGHD3-9   IGHD4-11   IGHD4-17   IGHD4-23   IGHD4-4   IGHD5-12   IGHD5-18   IGHD5-24   IGHD5-5   IGHD6-13   IGHD6-19   IGHD6-25   IGHD6-6   IGHD7-27   IGHE   IGHG1   IGHG2   IGHG3   IGHG4   IGHJ1   IGHJ2   IGHJ3   IGHJ4   IGHJ5   IGHJ6   IGHM   IGHV1-18   IGHV1-2   IGHV1-24   IGHV1-3   IGHV1-45   IGHV1-46   IGHV1-58   IGHV1-69   IGHV1-69-2   IGHV1-69D   IGHV2-26   IGHV2-5   IGHV2-70   IGHV2-70D   IGHV3-11   IGHV3-13   IGHV3-15   IGHV3-16   IGHV3-20   IGHV3-21   IGHV3-23   IGHV3-30   IGHV3-33   IGHV3-35   IGHV3-38   IGHV3-43   IGHV3-48   IGHV3-49   IGHV3-53   IGHV3-64   IGHV3-64D   IGHV3-66   IGHV3-7   IGHV3-72   IGHV3-73   IGHV3-74   IGHV4-28   IGHV4-30-2   IGHV4-31   IGHV4-34   IGHV4-39   IGHV4-4   IGHV4-59   IGHV4-61   IGHV5-10-1   IGHV5-51   IGHV6-1   IGHV7-4-1   INF2   JAG2   KIF26A   KLC1   LBHD2   LINC00221   LINC00226   LINC00605   LINC00637   LINC00638   LINC00677   LINC02280   LINC02298   LINC02323   LINC02691   MARK3   MIR12121   MIR203A   MIR203B   MIR4309   MIR4507   MIR4537   MIR4538   MIR4539   MIR4710   MIR5195   MIR6765   MIR8071-1   MIR8071-2   MOK   MTA1   NUDT14   PACS2   PLD4   PPP1R13B   RCOR1   RD3L   SIVA1   SNORA28   TDRD9   TECPR2   TEDC1   TEX22   TMEM121   TMEM179   TNFAIP2   TRAF3   TRI-AAT5-4   TRMT61A   WDR20   XRCC3   ZBTB42   ZFYVE21   ZNF839  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_101994084)_(106855405_?)del
NC_000014.8:g.(?_102460421)_(107263620_?)del
NC_000014.7:g.(?_101530174)_(106334665_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3814101,994,084 - 106,855,405CLINVAR
GRCh3714102,460,421 - 107,263,620CLINVAR
Build 3614101,530,174 - 106,334,665CLINVAR
Cytogenetic Map1414q32.31-32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618593
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.