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Variant : CV159319 (GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1) Homo sapiens

Symbol: CV159319
Name: GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1
Condition: See cases [RCV000138565]
Clinical Significance: likely pathogenic
Last Evaluated: 05/03/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGXT   ANKMY1   ANO7   AQP12A   AQP12B   ATG4B   BOK   BOK-AS1   CAPN10   CAPN10-DT   CROCC2   D2HGDH   DTYMK   DUSP28   FAM240C   FARP2   GAL3ST2   GPC1   GPR35   HDLBP   ING5   KIF1A   LINC01237   LINC01238   LINC01880   LINC01881   LOC285097   MAB21L4   MIR149   MIR3133   MTERF4   NEU4   PASK   PDCD1   PPP1R7   RNPEPL1   RTP5   SEPTIN2   SNED1   SNED1-AS1   STK25   THAP4   UICLM  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_240187901)_(242126245_?)del
Human AssemblyChrPosition (strand)Source
GRCh382240,187,901 - 242,126,245CLINVAR
GRCh372241,127,318 - 243,059,659 (+)CLINVAR
Build 362240,775,991 - 242,717,069CLINVAR
Cytogenetic Map22q37.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9486105
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE


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