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Variant : CV72408 (GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1) Homo sapiens

Symbol: CV72408
Name: GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553]
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   DIO3   DIO3OS   DLK1   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   IGHV5-51   IGHV6-1   INF2   JAG2   KIF26A   KLC1   LBHD2   LINC00221   LINC00226   LINC00239   LINC00523   LINC00524   LINC00605   LINC00637   LINC00638   LINC00677   LINC02280   LINC02285   LINC02298   LINC02314   LINC02320   LINC02323   MARK3   MEG3   MEG8   MEG9   MIR1185-1   MIR1185-2   MIR1193   MIR1197   MIR1247   MIR127   MIR134   MIR136   MIR154   MIR203A   MIR203B   MIR2392   MIR299   MIR300   MIR323A   MIR323B   MIR329-1   MIR329-2   MIR337   MIR369   MIR370   MIR376A1   MIR376A2   MIR376B   MIR376C   MIR377   MIR379   MIR380   MIR381   MIR381HG   MIR382   MIR409   MIR410   MIR411   MIR412   MIR4309   MIR431   MIR432   MIR433   MIR4507   MIR4537   MIR4538   MIR4539   MIR4710   MIR485   MIR487A   MIR487B   MIR493   MIR494   MIR495   MIR496   MIR5195   MIR539   MIR541   MIR543   MIR544A   MIR654   MIR655   MIR656   MIR665   MIR668   MIR6765   MIR758   MIR770   MIR8071-1   MIR8071-2   MIR889   MOK   MTA1   NUDT14   PACS2   PLD4   PPP1R13B   PPP2R5C   RCOR1   RD3L   RTL1   SIVA1   SNORA28   SNORD112   SNORD113-1   SNORD113-2   SNORD113-3   SNORD113-4   SNORD113-5   SNORD113-6   SNORD113-7   SNORD113-8   SNORD113-9   SNORD114-1   SNORD114-10   SNORD114-11   SNORD114-12   SNORD114-13   SNORD114-14   SNORD114-15   SNORD114-16   SNORD114-17   SNORD114-18   SNORD114-19   SNORD114-2   SNORD114-20   SNORD114-21   SNORD114-22   SNORD114-23   SNORD114-24   SNORD114-25   SNORD114-26   SNORD114-27   SNORD114-28   SNORD114-29   SNORD114-3   SNORD114-30   SNORD114-31   SNORD114-4   SNORD114-5   SNORD114-6   SNORD114-7   SNORD114-8   SNORD114-9   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.(?_100590353)_(106855264_?)del
NC_000014.8:g.(?_101056690)_(107263479_?)del
NC_000014.7:g.(?_100126443)_(106334524_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3814100,590,353 - 106,855,264CLINVAR
GRCh3714101,056,690 - 107,263,479CLINVAR
Build 3614100,126,443 - 106,334,524CLINVAR
Cytogenetic Map1414q32.2-32.33CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618568
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.