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Variant : CV613333 (GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1) Homo sapiens

Symbol: CV613333
Name: GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1
Condition: not provided [RCV000762739]
Clinical Significance: likely pathogenic
Last Evaluated: 05/18/2018
Review Status: criteria provided, single submitter
Related Genes: ACSL6   ADAMTS19   AFF4   C5orf15   C5orf24   C5orf63   CAMLG   CATSPER3   CCNI2   CDC42SE2   CDKL3   CDKN2AIPNL   CHSY3   CSF2   CTXN3   CXCL14   DCANP1   DDX46   FBN2   FNIP1   FSTL4   GDF9   HINT1   HSPA4   IL13   IL3   IL4   IL5   IL9   IRF1   ISOC1   JADE2   KIF3A   LEAP2   LECT2   LYRM7   MACROH2A1   MEGF10   MINAR2   NEUROG1   P4HA2   PCBD2   PDLIM4   PITX1   PPP2CA   PRRC1   RAD50   RAPGEF6   SAR1B   SEC24A   SEPTIN8   SHROOM1   SKP1   SLC12A2   SLC22A4   SLC22A5   SLC25A48   SLC27A6   SMAD5   SOWAHA   TCF7   TGFBI   TIFAB   TRPC7   TXNDC15   UBE2B   UQCRQ   VDAC1   VTRNA2-1   ZCCHC10  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh375126,377,719 - 136,270,989CLINVAR
Cytogenetic Map55q23.2-31.2CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14397459
Created: 2019-04-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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