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Variant : CV72951 (GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1) Homo sapiens

Symbol: CV72951
Name: GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1
Condition: See cases [RCV000052109]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACSL6   ACSL6-AS1   ADAMTS19   ADAMTS19-AS1   ALDH7A1   C5orf63   CCDC192   CCNI2   CDC42SE2   CHSY3   CSF2   CTXN3   FBN2   FNIP1   GDF9   GRAMD2B   HINT1   IL13   IL3   IL4   IL5   IRF1   IRF1-AS1   ISOC1   KIF3A   LEAP2   LINC01184   LINC02863   LMNB1   LMNB1-DT   LYRM7   MARCHF3   MEGF10   MEIKIN   MINAR2   MIR3936   MIR3936HG   MIR4460   MIR4633   MIR6830   P4HA2   P4HA2-AS1   PDLIM4   PHAX   PRRC1   RAD50   RAPGEF6   SEPTIN8   SHROOM1   SLC12A2   SLC22A4   SLC22A5   SLC27A6   SOWAHA   TEX43   TH2LCRR   UQCRQ  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_126438406)_(132873967_?)del
Human AssemblyChrPosition (strand)Source
GRCh385126,438,406 - 132,873,967CLINVAR
GRCh375125,774,098 - 132,209,659CLINVAR
Build 365125,801,997 - 132,237,558CLINVAR
Cytogenetic Map55q23.2-31.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619113
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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