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Variant : CV71639 (GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1) Homo sapiens

Symbol: CV71639
Name: GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050637]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050637]|See cases [RCV000050637]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADIPOR2   B4GALNT3   CACNA1C   CACNA1C-AS1   CACNA1C-AS2   CACNA1C-AS4   CACNA1C-IT1   CACNA1C-IT2   CACNA1C-IT3   CACNA2D4   CCDC77   CRACR2A   DCP1B   ERC1   FBXL14   FKBP4   FOXM1   IQSEC3   ITFG2   ITFG2-AS1   KDM5A   LINC00940   LINC00942   LINC02417   LINC02455   LINC02827   LRTM2   MIR3649   NINJ2   NINJ2-AS1   NRIP2   PARP11   PARP11-AS1   PRMT8   RAD52   RHNO1   SLC6A12   SLC6A13   TEAD4   TEX52   TSPAN9   TULP3   WNK1   WNT5B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_121255)_(3968447_?)del
NC_000012.11:g.(?_282465)_(4077613_?)del
NC_000012.10:g.(?_100682)_(3947874_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3812121,255 - 3,968,447CLINVAR
GRCh3712282,465 - 4,077,613CLINVAR
Build 3612100,682 - 3,947,874CLINVAR
Cytogenetic Map1212p13.33-13.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617740
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.