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Variant : CV554388 (GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1) Homo sapiens

Symbol: CV554388
Name: GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1
Condition: not provided [RCV000682693]
Clinical Significance: pathogenic
Last Evaluated: 08/25/2017
Review Status: no assertion criteria provided
Related Genes: AFG1L   AK9   AMD1   ARMC2   ASCC3   ATG5   BEND3   BVES   CCN6   CCNC   CD164   CDC40   CDK19   CEP57L1   COL10A1   COQ3   CRYBG1   DDO   DSE   FAM229B   FAXC   FBXL4   FHL5   FIG4   FOXO3   FRK   FUT9   FYN   GPR6   GPR63   GRIK2   GTF3C6   HACE1   HDAC2   HS3ST5   KLHL32   LAMA4   LIN28B   MANEA   MARCKS   MCHR2   METTL24   MFSD4B   MICAL1   MMS22L   MTRES1   NDUFAF4   NR2E1   NT5DC1   OSTM1   PDSS2   PNISR   POPDC3   POU3F2   PPIL6   PRDM1   PRDM13   PREP   QRSL1   REV3L   RFPL4B   RPF2   RTN4IP1   SCML4   SEC63   SESN1   SIM1   SLC16A10   SLC22A16   SMPD2   SNX3   SOBP   TRAF3IP2   TRAF3IP2-AS1   TSPYL1   TSPYL4   TSTD3   TUBE1   UFL1   USP45   WASF1   ZBTB24  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37695,549,951 - 116,684,929CLINVAR
Cytogenetic Map66q16.1-22.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13795562
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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