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Variant : CV165171 (GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1) Homo sapiens

Symbol: CV165171
Name: GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1
Condition: See cases [RCV000143484]
Clinical Significance: pathogenic
Last Evaluated: 06/25/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGPS   ANKAR   ASDURF   ASNSD1   C2orf88   CALCRL   CAVIN2   CAVIN2-AS1   CCDC141   CERKL   CHROMR   COL3A1   COL5A2   CWC22   DIRC1   DNAJC10   DUSP19   FAM171B   FKBP7   FRZB   FSIP2   FSIP2-AS1   FSIP2-AS2   GLS   GULP1   HAGLR   HAGLROS   HIBCH   HNRNPA3   HOXD-AS2   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   INPP1   ITGA4   ITGAV   ITPRID2   LINC01090   LINC01116   LINC01117   LINC01473   LINC01934   MFSD6   MIR10B   MIR1245A   MIR1245B   MIR1246   MIR1258   MIR3128   MIR3129   MIR3606   MIR4437   MIR4444-1   MIR548AE1   MIR561   MIR6512   MIR7704   MSTN   MTX2   MYO1B   NAB1   NABP1   NCKAP1   NEMP2   NEUROD1   NFE2L2   NUP35   ORMDL1   OSBPL6   OSGEPL1   OSGEPL1-AS1   PCGEM1   PDE11A   PDE11A-AS1   PDE1A   PJVK   PLEKHA3   PMS1   PPP1R1C   PRKRA   RBM45   SCHLAP1   SESTD1   SLC40A1   STAT1   STAT4   TFPI   TMEFF2   TTC30A   TTC30B   TTN   TTN-AS1   UBE2E3   WDR75   ZC3H15   ZNF385B   ZNF804A   ZSWIM2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_176086763)_(193201970_?)del
NC_000002.11:g.(?_176951491)_(194066696_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382176,086,763 - 193,201,970CLINVAR
GRCh372176,951,491 - 194,066,696CLINVAR
Build 362176,659,737 - 193,774,941CLINVAR
Cytogenetic Map22q31.1-32.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9491082
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.