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

Variant : CV162290 (GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1) Homo sapiens

Symbol: CV162290
Name: GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1
Condition: See cases [RCV000141077]
Clinical Significance: likely pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGXT   ANO7   AQP12A   AQP12B   ATG4B   BOK   BOK-AS1   CROCC2   D2HGDH   DTYMK   FARP2   GAL3ST2   HDLBP   ING5   KIF1A   LINC01237   LINC01238   LINC01880   LINC01881   LOC285097   MAB21L4   MIR3133   MTERF4   NEU4   PASK   PDCD1   PPP1R7   RTP5   SEPTIN2   SNED1   STK25   THAP4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_240671231)_(242092126_?)del
NC_000002.11:g.(?_241610648)_(243034277_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382240,671,231 - 242,092,126CLINVAR
GRCh372241,610,648 - 243,034,277CLINVAR
Build 362241,259,321 - 242,682,950CLINVAR
Cytogenetic Map22q37.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488605
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



NHLBI Logo

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