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Variant : CV159052 (GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1) Homo sapiens

Symbol: CV159052
Name: GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1
Condition: See cases [RCV000138349]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/20/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRF1   ADGRF2   ADGRF4   ADGRF5   ADGRF5-AS1   ANKRD66   C6orf141   CD2AP   CENPQ   CILK1   CLIC5   CRISP1   CRISP2   CRISP3   CYP39A1   DEFB110   DEFB112   DEFB113   DEFB114   EFHC1   ELOVL5   ENPP4   ENPP5   FBXO9   GCLC   GCM1   GLYATL3   GSTA1   GSTA2   GSTA3   GSTA4   GSTA5   IL17A   IL17F   KLHL31   LINC01564   LINCMD1   LRRC1   MCM3   MEP1A   MIR133B   MIR206   MIR5685   MLIP   MLIP-AS1   MLIP-IT1   MMUT   OPN5   PAQR8   PGK2   PKHD1   PLA2G7   PTCHD4   RCAN2   RHAG   RN7SK   SLC25A27   TDRD6   TFAP2B   TFAP2D   TMEM14A   TNFRSF21   TRAM2   TRAM2-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_45681671)_(54212044_?)del
NC_000006.11:g.(?_45649408)_(54076842_?)del
NC_000006.10:g.(?_45757386)_(54184801_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38645,681,671 - 54,212,044CLINVAR
GRCh37645,649,408 - 54,076,842CLINVAR
Build 36645,757,386 - 54,184,801CLINVAR
Cytogenetic Map66p21.1-12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485898
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.