Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV72419 (GRCh38/hg38 4p16.3(chr4:1196923-2487080)x3) Homo sapiens

Symbol: CV72419
Name: GRCh38/hg38 4p16.3(chr4:1196923-2487080)x3
Condition: See cases [RCV000051564]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: C4orf48   CFAP99   CTBP1   CTBP1-AS   CTBP1-DT   FAM53A   FGFR3   HAUS3   LETM1   LOC100130872   LOC110120693   LOC114004382   LOC114004383   LOC116158483   LOC116158484   MAEA   MIR4800   MIR943   MXD4   NAT8L   NELFA   NKX1-1   NSD2   POLN   RNF4   SCARNA22   SLBP   SPON2   TACC3   TMEM129   UVSSA   ZFYVE28  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_1196923)_(2487080_?)dup
NC_000004.11:g.(?_1190711)_(2488807_?)dup
NC_000004.10:g.(?_1180711)_(2458605_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3841,196,923 - 2,487,080CLINVAR
GRCh3741,190,711 - 2,488,807CLINVAR
Build 3641,180,711 - 2,458,605CLINVAR
Cytogenetic Map44p16.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618579
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.