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Variant : CV72081 (GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1) Homo sapiens

Symbol: CV72081
Name: GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1
Condition: Congenital diaphragmatic hernia [RCV000051196]|See cases [RCV000051196]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AK9   AKAP7   AMD1   ARG1   ARHGAP18   ARMC2   ASF1A   C6orf58   CALHM4   CALHM5   CALHM6   CCN2   CCN6   CD164   CDC40   CDK19   CENPW   CEP57L1   CEP85L   CLVS2   COL10A1   CTAGE9   DCBLD1   DDO   DSE   ECHDC1   ENPP1   ENPP3   EPB41L2   FABP7   FAM162B   FAM184A   FAM229B   FIG4   FRK   FYN   GJA1   GOPC   GPR6   GPRC6A   GTF3C6   HDAC2   HDAC2-AS2   HDDC2   HEY2   HINT3   HS3ST5   HSF2   KIAA0408   KPNA5   L3MBTL3   LAMA2   LAMA4   LAMA4-AS1   LINC02518   LINC02523   LINC02527   LINC02534   LINC02541   LINC02880   MAN1A1   MARCKS   MCM9   MED23   METTL24   MFSD4B   MICAL1   MIR3144   MIR548B   MIR548H5   MIR588   MROCKI   NCOA7   NCOA7-AS1   NKAIN2   NT5DC1   NUS1   OR2A4   PKIB   PLN   PPIL6   PTPRK   REV3L   RFPL4B   RFX6   RNF146   RNF217   RNF217-AS1   ROS1   RPF2   RSPH4A   RSPO3   RWDD1   SAMD3   SERINC1   SESN1   SLC16A10   SLC22A16   SLC35F1   SMLR1   SMPD2   SMPDL3A   SNORA40C   SNORD166   SOGA3   TBC1D32   THEMIS   TMEM200A   TMEM244   TPD52L1   TRAF3IP2   TRAF3IP2-AS1   TRAPPC3L   TRDN   TRDN-AS1   TRE-CTC1-7   TRMT11   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.(?_108944899)_(132067720_?)del
NC_000006.11:g.(?_109266102)_(132388860_?)del
NC_000006.10:g.(?_109372795)_(132430553_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386108,944,899 - 132,067,720CLINVAR
GRCh376109,266,102 - 132,388,860CLINVAR
Build 366109,372,795 - 132,430,553CLINVAR
Cytogenetic Map66q21-23.2CLINVAR
Age Of Onset: neonatal/infancy



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618236
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.