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Variant : CV72956 (GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1) Homo sapiens

Symbol: CV72956
Name: GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1
Condition: Failure to thrive [RCV000052114]|See cases [RCV000052114]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BRD8   C5orf15   C5orf24   C5orf66   C5orf66-AS1   C5orf66-AS2   CAMLG   CATSPER3   CDC23   CDC25C   CDKL3   CDKN2AIPNL   CXCL14   DCANP1   DDX46   FAM13B   FAM53C   FSTL4   GFRA3   HNRNPA0   IL9   JADE2   KDM3B   KIF20A   KLHL3   LECT2   LINC01843   MACROH2A1   MIR1289-2   MIR3661   MIR5692C1   MIR874   MYOT   NEUROG1   NME5   PCBD2   PITX1   PKD2L2   PPP2CA   SAR1B   SEC24A   SKP1   SLC25A48   SLC25A48-AS1   SMAD5   SMAD5-AS1   SMIM32   SPOCK1   TCF7   TGFBI   TIFAB   TRPC7   TRPC7-AS2   TXNDC15   UBE2B   VDAC1   VTRNA2-1   WNT8A   WSPAR  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_133401565)_(138437038_?)del
NC_000005.9:g.(?_132737257)_(137772727_?)del
NC_000005.8:g.(?_132765156)_(137800626_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh385133,401,565 - 138,437,038CLINVAR
GRCh375132,737,257 - 137,772,727CLINVAR
Build 365132,765,156 - 137,800,626CLINVAR
Cytogenetic Map55q31.1-31.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619118
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.