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Variant : CV162839 (GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1) Homo sapiens

Symbol: CV162839
Name: GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1
Condition: See cases [RCV000141587]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AFG1L   AK9   AMD1   ARMC2   ARMC2-AS1   ASF1A   BEND3   CALHM4   CALHM5   CALHM6   CCN6   CD164   CD24   CDC40   CDK19   CEP57L1   CEP85L   CLVS2   COL10A1   CRYBG1   DCBLD1   DDO   DSE   FABP7   FAM162B   FAM184A   FAM229B   FIG4   FOXO3   FRK   FYN   GJA1   GOPC   GPR6   GPRC6A   GTF3C6   HDAC2   HDAC2-AS2   HDDC2   HEY2   HS3ST5   HSF2   KPNA5   LAMA4   LAMA4-AS1   LINC00222   LINC02518   LINC02523   LINC02526   LINC02527   LINC02532   LINC02534   LINC02541   LINC02880   MAN1A1   MARCKS   MCM9   METTL24   MFSD4B   MICAL1   MIR3144   MIR548B   MIR587   MROCKI   MTRES1   NCOA7   NKAIN2   NR2E1   NT5DC1   NUS1   OSTM1   OSTM1-AS1   PDSS2   PKIB   PLN   PPIL6   QRSL1   REV3L   RFPL4B   RFX6   RNF217   RNF217-AS1   ROS1   RPF2   RSPH4A   RTN4IP1   RWDD1   SCML4   SEC63   SERINC1   SESN1   SLC16A10   SLC22A16   SLC35F1   SMPD2   SMPDL3A   SNORA40C   SNORD166   SNX3   SOBP   TBC1D32   TPD52L1   TRAF3IP2   TRAF3IP2-AS1   TRAPPC3L   TRDN   TRDN-AS1   TRE-CTC1-7   TSPYL1   TSPYL4   TUBE1   VGLL2   WASF1   ZBTB24   ZUP1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_106503719)_(125781219_?)del
Human AssemblyChrPosition (strand)Source
GRCh386106,503,719 - 125,781,219CLINVAR
GRCh376106,951,594 - 126,102,365CLINVAR
Build 366107,058,287 - 126,144,058CLINVAR
Cytogenetic Map66q21-22.31CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489112
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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