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Variant : CV74528 (GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3) Homo sapiens

Symbol: CV74528
Name: GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3
Condition: Abnormality of the ear [RCV000053804]|See cases [RCV000053804]
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   APEX1   ARHGEF40   CCNB1IP1   EDDM3A   EDDM3B   HNRNPC   KLHL33   LINC00641   METTL17   MIR6717   NDRG2   OR11G2   OR11H4   OR11H6   OR11H7   OR4N5   OR5AU1   OR6S1   OSGEP   PARP2   PIP4P1   PNP   RNASE1   RNASE10   RNASE11   RNASE12   RNASE13   RNASE2   RNASE3   RNASE4   RNASE6   RNASE7   RNASE8   RNASE9   RPGRIP1   RPPH1   SLC39A2   SNORA79B   SNORD126   SUPT16H   TEP1   TMEM253   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   TTC5   ZNF219  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_20127290)_(21376436_?)dup
NC_000014.8:g.(?_20595449)_(21844595_?)dup
NC_000014.7:g.(?_19665289)_(20914435_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381420,127,290 - 21,376,436CLINVAR
GRCh371420,595,449 - 21,844,595CLINVAR
Build 361419,665,289 - 20,914,435CLINVAR
Cytogenetic Map1414q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620719
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-15
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.