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Variant : CV383084 (GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1) Homo sapiens

Symbol: CV383084
Name: GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1
Condition: See cases [RCV000445666]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AFG1L   AK9   AKIRIN2   AMD1   ANKRD6   ARMC2   ASCC3   ASF1A   ATG5   BACH2   BEND3   BVES   C6orf163   CALHM4   CALHM5   CALHM6   CASP8AP2   CCN6   CCNC   CD164   CDC40   CDK19   CEP57L1   CEP85L   CFAP206   CGA   CNR1   COL10A1   COQ3   CRYBG1   DCBLD1   DDO   DSE   EPHA7   FAM162B   FAM184A   FAM229B   FAXC   FBXL4   FHL5   FIG4   FOXO3   FRK   FUT9   FYN   GABRR1   GABRR2   GJA10   GJB7   GOPC   GPR6   GPR63   GPRC6A   GRIK2   GTF3C6   HACE1   HDAC2   HS3ST5   HTR1E   KLHL32   KPNA5   LAMA4   LIN28B   LYRM2   MAN1A1   MANEA   MAP3K7   MARCKS   MCHR2   MCM9   MDN1   METTL24   MFSD4B   MICAL1   MMS22L   MTRES1   NDUFAF4   NR2E1   NT5DC1   NT5E   NUS1   ORC3   OSTM1   PDSS2   PLN   PM20D2   PNISR   PNRC1   POPDC3   POU3F2   PPIL6   PRDM1   PRDM13   PREP   QRSL1   RARS2   REV3L   RFPL4B   RFX6   RNGTT   ROS1   RPF2   RRAGD   RSPH4A   RTN4IP1   RWDD1   SCML4   SEC63   SESN1   SIM1   SLC16A10   SLC22A16   SLC35A1   SLC35F1   SMIM8   SMPD2   SNHG5   SNORD50A   SNORD50B   SNX14   SNX3   SOBP   SPACA1   SRSF12   SYNCRIP   TRAF3IP2   TRAF3IP2-AS1   TRAPPC3L   TSPYL1   TSPYL4   TSTD3   TUBE1   UBE2J1   UFL1   USP45   VGLL2   WASF1   ZBTB24   ZNF292   ZUP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37685,988,428 - 120,548,687CLINVAR
Cytogenetic Map66q14.3-22.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12850400
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.