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Variant : CV162979 (GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1) Homo sapiens

Symbol: CV162979
Name: GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1
Condition: See cases [RCV000141691]
Clinical Significance: pathogenic
Last Evaluated: 03/24/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGXT   ANKMY1   ANO7   AQP12A   AQP12B   ATG4B   BOK   BOK-AS1   CAPN10   CAPN10-DT   COPS9   CROCC2   D2HGDH   DTYMK   DUSP28   FARP2   GAL3ST2   GPC1   GPR35   HDLBP   ING5   KIF1A   MAB21L4   MIR149   MIR3133   MIR4786   MTERF4   NDUFA10   NEU4   OR6B2   OR6B3   OTOS   PASK   PPP1R7   PRR21   RNPEPL1   SEPTIN2   SNED1   STK25   THAP4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_239507342)_(241841232_?)del
NC_000002.11:g.(?_240429036)_(242783384_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382239,507,342 - 241,841,232CLINVAR
GRCh372240,429,036 - 242,783,384CLINVAR
Build 362240,093,973 - 242,432,057CLINVAR
Cytogenetic Map22q37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489216
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



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