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Variant : CV72341 (GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1) Homo sapiens

Symbol: CV72341
Name: GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051486]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051486]|See cases [RCV000051486]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANG   ARHGEF40   CHD8   EDDM3A   EDDM3B   HNRNPC   LINC00641   METTL17   METTL3   MIR6717   NDRG2   OR10G3   OR5AU1   OR6S1   PNP   RAB2B   RNASE1   RNASE10   RNASE11   RNASE12   RNASE13   RNASE2   RNASE3   RNASE4   RNASE6   RNASE7   RNASE8   RNASE9   RPGRIP1   SALL2   SLC39A2   SNORD8   SNORD9   SUPT16H   TMEM253   TOX4   TPPP2   TRL-AAG2-3   TRL-TAG2-1   TRP-AGG2-5   TRP-AGG2-6   TRP-TGG1-1   TRP-TGG3-2   TRT-TGT3-1   TRT-TGT4-1   TRT-TGT5-1   TRY-GTA4-1   TRY-GTA5-3   TRY-GTA5-4   TRY-GTA5-5   TRY-GTA7-1   ZNF219  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_20475357)_(21613255_?)del
NC_000014.8:g.(?_20943516)_(22081409_?)del
NC_000014.7:g.(?_20013356)_(21151249_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381420,475,357 - 21,613,255CLINVAR
GRCh371420,943,516 - 22,081,409CLINVAR
Build 361420,013,356 - 21,151,249CLINVAR
Cytogenetic Map1414q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618501
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.