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Variant : CV163998 (GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1) Homo sapiens

Symbol: CV163998
Name: GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1
Condition: See cases [RCV000142333]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADSS1   AHNAK2   AKT1   ASPG   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   IGHV7-81   INF2   JAG2   KIF26A   LINC00221   LINC00226   LINC00638   LINC02280   LINC02298   LINC02691   MIR12121   MIR203A   MIR203B   MIR4507   MIR4537   MIR4538   MIR4539   MIR4710   MIR5195   MIR6765   MIR8071-1   MIR8071-2   MTA1   NUDT14   PACS2   PLD4   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.(?_104051258)_(106877229_?)del
NC_000014.8:g.(?_104517595)_(107285437_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3814104,051,258 - 106,877,229CLINVAR
GRCh3714104,517,595 - 107,285,437CLINVAR
Build 3614103,587,348 - 106,356,482CLINVAR
Cytogenetic Map1414q32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489852
Created: 2014-09-09
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.