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Variant : CV158088 (GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1) Homo sapiens

Symbol: CV158088
Name: GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1
Condition: See cases [RCV000137411]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACKR3   AGAP1   AGAP1-IT1   ARL4C   ASB1   ASB18   COL6A3   COPS8   ERFE   ESPNL   GBX2   HDAC4   HDAC4-AS1   HES6   ILKAP   IQCA1   KLHL30   LINC01107   LINC01173   LINC01891   LINC01937   LINC01940   LINC02610   LRRFIP1   MIR2467   MIR4269   MIR4440   MIR4441   MIR6811   MLPH   PER2   PRLH   RAB17   RAMP1   RBM44   SCLY   SH3BP4   SPP2   TNRC17   TRAF3IP1   TWIST2   UBE2F   UBE2F-SCLY  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_234058757)_(239443690_?)del
NC_000002.11:g.(?_234967401)_(240365384_?)del
NC_000002.10:g.(?_234632140)_(240030321_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382234,058,757 - 239,443,690CLINVAR
GRCh372234,967,401 - 240,365,384CLINVAR
Build 362234,632,140 - 240,030,321CLINVAR
Cytogenetic Map22q37.1-37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484967
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-04
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.