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

Variant : CV164946 (GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3) Homo sapiens

Symbol: CV164946
Name: GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3
Condition: See cases [RCV000143259]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 01/25/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABI3BP   ADGRG7   ARL13B   ARL6   CEP97   CLDND1   CMSS1   COL8A1   CPOX   CRYBG3   DCBLD2   DHFR2   EPHA6   FILIP1L   GABRR3   GPR15   IMPG2   LINC00879   LINC02085   LNP1   MIR3921   MIR548AB   MIR8060   NFKBIZ   NIT2   NSUN3   NXPE3   OR5AC2   OR5H1   OR5H14   OR5H15   OR5H2   OR5H6   OR5K1   OR5K2   OR5K3   OR5K4   PCNP   PROS1   RIOX2   RPL24   SENP7   ST3GAL6   ST3GAL6-AS1   STX19   TBC1D23   TFG   TMEM45A   TOMM70   TRMT10C   ZBTB11   ZBTB11-AS1   ZPLD1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_93819623)_(103888749_?)dup
NC_000003.11:g.(?_93538467)_(103607593_?)dup
NC_000003.10:g.(?_95021157)_(105090283_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38393,819,623 - 103,888,749CLINVAR
GRCh37393,538,467 - 103,607,593CLINVAR
Build 36395,021,157 - 105,090,283CLINVAR
Cytogenetic Map33q11.1-13.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490857
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

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