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Variant : CV71990 (GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1) Homo sapiens

Symbol: CV71990
Name: GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1
Condition: Failure to thrive [RCV000051092]|See cases [RCV000051092]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANKRD44   ANKRD44-AS1   ANKRD44-IT1   BOLL   C2orf66   CCDC150   COQ10B   DNAH7   GTF3C3   HECW2   HECW2-AS1   HSPD1   HSPE1   HSPE1-MOB4   LINC01790   LINC01827   LINC01923   MARS2   MOB4   PGAP1   PLCL1   RFTN2   SF3B1   SLC39A10   SNORA105B   STK17B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_194515159)_(198545937_?)del
Human AssemblyChrPosition (strand)Source
GRCh382194,515,159 - 198,545,937CLINVAR
GRCh372195,379,883 - 199,410,661CLINVAR
Build 362195,088,128 - 199,118,906CLINVAR
Cytogenetic Map22q32.3-33.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8618135
Created: 2014-05-13
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.