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Variant : CV74050 (GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1) Homo sapiens

Symbol: CV74050
Name: GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1
Condition: Encephalopathy [RCV000053297]|See cases [RCV000053297]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCG2   ABRAXAS1   AFF1   AFF1-AS1   ANTXR2   ARHGAP24   BMP3   C4orf36   CCSER1   CDS1   CFAP299   COPS4   COQ2   DMP1   DSPP   ENOPH1   FAM13A   FAM13A-AS1   FGF5   GPAT3   GPRIN3   GRID2   HELQ   HERC3   HERC5   HERC6   HNRNPD   HNRNPDL   HPSE   HSD17B11   HSD17B13   IBSP   KLHL8   LIN54   LINC00575   LINC00989   LNCPRESS2   MAPK10   MAPK10-AS1   MEPE   MIR4451   MIR4452   MIR5705   MIR575   MMRN1   MRPS18C   NAP1L5   NKX6-1   NUDT9   PCAT4   PIGY   PIGY-DT   PKD2   PLAC8   PPM1K   PPM1K-DT   PRDM8   PRKG2   PTPN13   PYURF   RASGEF1B   SCD5   SEC31A   SLC10A6   SNCA   SNCA-AS1   SNORD143   SNORD144   SPARCL1   SPP1   THAP9   THAP9-AS1   TIGD2   TMEM150C   WDFY3   WDFY3-AS2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_79575748)_(92412449_?)del
NC_000004.11:g.(?_80496902)_(93333600_?)del
NC_000004.10:g.(?_80715926)_(93552623_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38479,575,748 - 92,412,449CLINVAR
GRCh37480,496,902 - 93,333,600CLINVAR
Build 36480,715,926 - 93,552,623CLINVAR
Cytogenetic Map44q21.21-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620234
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.