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Variant : CV156390 (GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1) Homo sapiens

Symbol: CV156390
Name: GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1
Condition: See cases [RCV000135897]
Clinical Significance: pathogenic
Last Evaluated: 02/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BRF1   BTBD6   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   JAG2   LINC00221   LINC00226   LINC02298   MIR4507   MIR4537   MIR4538   MIR4539   MIR6765   MIR8071-1   MIR8071-2   MTA1   NUDT14   PACS2   TEDC1   TEX22   TMEM121  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_105023396)_(106850750_?)del
NC_000014.8:g.(?_105489733)_(107258965_?)del
NC_000014.7:g.(?_104560778)_(106330010_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3814105,023,396 - 106,850,750CLINVAR
GRCh3714105,489,733 - 107,258,965CLINVAR
Build 3614104,560,778 - 106,330,010CLINVAR
Cytogenetic Map1414q32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483463
Created: 2014-09-09
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.