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Variant : CV158951 (GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1) Homo sapiens

Symbol: CV158951
Name: GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1
Condition: See cases [RCV000138253]
Clinical Significance: pathogenic
Last Evaluated: 03/27/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANKAR   ASDURF   ASNSD1   C2orf88   CALCRL   CAVIN2   COL3A1   COL5A2   DIRC1   DNAJC10   DUSP19   FAM171B   FRZB   FSIP2   FSIP2-AS1   FSIP2-AS2   GLS   GULP1   HIBCH   INPP1   ITGAV   ITPRID2   LINC01090   LINC01473   MFSD6   MIR1245A   MIR1245B   MIR3129   MIR3606   MIR548AE1   MIR561   MSTN   MYO1B   NAB1   NABP1   NCKAP1   NEMP2   NUP35   ORMDL1   OSGEPL1   OSGEPL1-AS1   PDE1A   PMS1   PPP1R1C   SLC40A1   STAT1   STAT4   TFPI   TMEFF2   WDR75   ZC3H15   ZNF804A   ZSWIM2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_181758701)_(192015392_?)del
Human AssemblyChrPosition (strand)Source
GRCh382181,758,701 - 192,015,392CLINVAR
GRCh372182,623,428 - 192,880,118CLINVAR
Build 362182,331,673 - 192,588,363CLINVAR
Cytogenetic Map22q31.3-32.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9485802
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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