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Variant : CV72406 (GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1) Homo sapiens

Symbol: CV72406
Name: GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1
Condition: Coarse facial features [RCV000051551]|See cases [RCV000051551]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ASB2   ATXN3   BTBD7   CALM1   CATSPERB   CCDC197   CCDC88C   CHGA   CLMN   COX8C   CPSF2   DDX24   DGLUCY   DICER1   DICER1-AS1   FAM181A   FAM181A-AS1   FBLN5   GOLGA5   GON7   GPR68   GSC   GSC-DT   IFI27   IFI27L1   IFI27L2   ITPK1   ITPK1-AS1   LGMN   LINC00642   LINC02287   LINC02317   LINC02321   LINC02833   MIR3173   MIR4506   MOAP1   NDUFB1   NRDE2   OTUB2   PPP4R3A   PPP4R4   PRIMA1   PSMC1   RIN3   RPS6KA5   SERPINA1   SERPINA10   SERPINA11   SERPINA12   SERPINA2   SERPINA3   SERPINA4   SERPINA5   SERPINA6   SERPINA9   SLC24A4   SNORA11B   TC2N   TMEM251   TRIP11   TTC7B   UBR7   UNC79  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_90255156)_(95274696_?)del
NC_000014.8:g.(?_90721500)_(95741033_?)del
NC_000014.7:g.(?_89791253)_(94810786_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381490,255,156 - 95,274,696CLINVAR
GRCh371490,721,500 - 95,741,033CLINVAR
Build 361489,791,253 - 94,810,786CLINVAR
Cytogenetic Map1414q32.11-32.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618566
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.