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Variant : CV164914 (GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1) Homo sapiens

Symbol: CV164914
Name: GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1
Condition: See cases [RCV000143227]
Clinical Significance: pathogenic
Last Evaluated: 03/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AFG1L   AK9   AMD1   ARMC2   ARMC2-AS1   ASCC3   ASF1A   ATG5   BEND3   BVES   BVES-AS1   CALHM4   CALHM5   CALHM6   CCN6   CD164   CD24   CDC40   CDK19   CEP57L1   CEP85L   COL10A1   CRYBG1   DCBLD1   DDO   DSE   FAM162B   FAM184A   FAM229B   FIG4   FLJ34503   FOXO3   FRK   FYN   GOPC   GPR6   GPRC6A   GRIK2   GTF3C6   HACE1   HDAC2   HDAC2-AS2   HS3ST5   KPNA5   LAMA4   LAMA4-AS1   LIN28B   LIN28B-AS1   LINC00222   LINC02518   LINC02526   LINC02527   LINC02532   LINC02534   LINC02541   LINC02836   MAN1A1   MARCKS   MCHR2-AS1   MCM9   METTL24   MFSD4B   MICAL1   MIR3144   MIR548B   MIR587   MROCKI   MTRES1   NR2E1   NT5DC1   NUS1   OSTM1   OSTM1-AS1   PDSS2   PLN   POPDC3   PPIL6   PRDM1   PREP   QRSL1   REV3L   RFPL4B   RFX6   ROS1   RPF2   RSPH4A   RTN4IP1   RWDD1   SCML4   SEC63   SESN1   SIM1   SLC16A10   SLC22A16   SLC35F1   SMPD2   SNORA40C   SNORD166   SNX3   SOBP   TRAF3IP2   TRAF3IP2-AS1   TRAPPC3L   TSPYL1   TSPYL4   TUBE1   VGLL2   WASF1   ZBTB24   ZUP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_100054889)_(120488154_?)del
NC_000006.11:g.(?_100502765)_(120809300_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386100,054,889 - 120,488,154CLINVAR
GRCh376100,502,765 - 120,809,300CLINVAR
Build 366100,609,486 - 120,850,999CLINVAR
Cytogenetic Map66q16.3-22.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490825
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.