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Variant : CV155400 (GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1) Homo sapiens

Symbol: CV155400
Name: GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1
Condition: See cases [RCV000134977]
Clinical Significance: pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCG2   ABRAXAS1   AFF1   AFF1-AS1   ARHGAP24   ATOH1   BMP3   BMPR1B   BMPR1B-DT   C4orf36   CCSER1   CDS1   CFAP299   COPS4   COQ2   DMP1   DSPP   ENOPH1   FAM13A   FAM13A-AS1   GPAT3   GPRIN3   GRID2   HELQ   HERC3   HERC5   HERC6   HNRNPD   HNRNPDL   HPGDS   HPSE   HSD17B11   HSD17B13   IBSP   KLHL8   LIN54   LINC00575   LNCPRESS2   MAPK10   MAPK10-AS1   MEPE   MIR4451   MIR4452   MIR5705   MIR575   MMRN1   MRPS18C   NAP1L5   NKX6-1   NUDT9   PDLIM5   PIGY   PIGY-DT   PKD2   PLAC8   PPM1K   PPM1K-DT   PRKG2   PTPN13   PYURF   RASGEF1B   SCD5   SEC31A   SLC10A6   SMARCAD1   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.(?_80879777)_(94809447_?)del
NC_000004.11:g.(?_81800931)_(95730598_?)del
NC_000004.10:g.(?_82019955)_(95949621_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38480,879,777 - 94,809,447CLINVAR
GRCh37481,800,931 - 95,730,598CLINVAR
Build 36482,019,955 - 95,949,621CLINVAR
Cytogenetic Map44q21.21-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482550
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.