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

Variant : CV383972 (GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1) Homo sapiens

Symbol: CV383972
Name: GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1
Condition: See cases [RCV000446532]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AGXT   ANKMY1   ANO7   AQP12A   AQP12B   ASB1   ATG4B   BOK   CAPN10   COL6A3   COPS8   COPS9   D2HGDH   DTYMK   DUSP28   ERFE   ESPNL   FARP2   GAL3ST2   GPC1   GPR35   HDAC4   HDLBP   HES6   ILKAP   ING5   KIF1A   KLHL30   LRRFIP1   MAB21L4   MIR149   MLPH   MTERF4   NDUFA10   NEU4   OR6B2   OR6B3   OTOS   PASK   PER2   PPP1R7   PRLH   PRR21   RAB17   RAMP1   RBM44   RNPEPL1   SCLY   SEPTIN2   SNED1   STK25   THAP4   TRAF3IP1   TWIST2   UBE2F  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372237,938,270 - 242,783,384CLINVAR
Cytogenetic Map22q37.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12851255
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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