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Variant : CV72436 (GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1) Homo sapiens

Symbol: CV72436
Name: GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051581]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051581]|See cases [RCV000051581]
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   ASPG   ATP5MPL   BRF1   BTBD6   C14orf180   CDCA4   CEP170B   CLBA1   CRIP1   CRIP2   FAM30A   GPR132   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   LINC00221   LINC00226   LINC00637   LINC00638   LINC02280   LINC02298   LINC02691   MIR12121   MIR203A   MIR203B   MIR4507   MIR4537   MIR4538   MIR4539   MIR4710   MIR5195   MIR6765   MIR8071-1   MIR8071-2   MTA1   NUDT14   PACS2   PLD4   PPP1R13B   RD3L   SIVA1   TDRD9   TEDC1   TEX22   TMEM121   TMEM179   ZBTB42  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_103784758)_(106870558_?)del
NC_000014.8:g.(?_104251095)_(107278770_?)del
NC_000014.7:g.(?_103320848)_(106349815_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3814103,784,758 - 106,870,558CLINVAR
GRCh3714104,251,095 - 107,278,770CLINVAR
Build 3614103,320,848 - 106,349,815CLINVAR
Cytogenetic Map1414q32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618596
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.