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Variant : CV155870 (GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1) Homo sapiens

Symbol: CV155870
Name: GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1
Condition: See cases [RCV000135442]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACSL6   ACSL6-AS1   AFF4   C5orf15   C5orf24   C5orf66   C5orf66-AS1   C5orf66-AS2   CAMLG   CATSPER3   CCNI2   CDKL3   CDKN2AIPNL   CSF2   CXCL14   DCANP1   DDX46   FNIP1   FSTL4   GDF9   HSPA4   IL13   IL3   IL4   IL5   IRF1   IRF1-AS1   JADE2   KIF3A   LEAP2   LINC01843   LINC02863   MACROH2A1   MEIKIN   MIR1289-2   MIR3661   MIR3936   MIR3936HG   MIR5692C1   MIR6830   NEUROG1   P4HA2   P4HA2-AS1   PCBD2   PDLIM4   PITX1   PPP2CA   RAD50   RAPGEF6   SAR1B   SEC24A   SEPTIN8   SHROOM1   SKP1   SLC22A4   SLC22A5   SLC25A48   SLC25A48-AS1   SOWAHA   TCF7   TH2LCRR   TIFAB   TXNDC15   UBE2B   UQCRQ   VDAC1   WSPAR   ZCCHC10  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_131626503)_(135815054_?)del
Human AssemblyChrPosition (strand)Source
GRCh385131,626,503 - 135,815,054CLINVAR
GRCh375130,962,196 - 135,150,743CLINVAR
Build 365130,990,095 - 135,178,642CLINVAR
Cytogenetic Map55q31.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9483015
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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