Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV73037 (GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1) Homo sapiens

Symbol: CV73037
Name: GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1
Condition: Abnormality of the eyebrow [RCV000052196]|See cases [RCV000052196]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ASF1A   C6orf58   CALHM4   CALHM5   CALHM6   CENPW   CEP85L   CLVS2   COL10A1   DCBLD1   DSE   ECHDC1   FABP7   FAM162B   FAM184A   FRK   GJA1   GOPC   GPRC6A   HDDC2   HEY2   HINT3   HSF2   KIAA0408   KPNA5   LINC02523   LINC02534   MAN1A1   MCM9   MIR3144   MIR548B   MIR588   NCOA7   NCOA7-AS1   NKAIN2   NT5DC1   NUS1   PKIB   PLN   PTPRK   RFX6   RNF146   RNF217   RNF217-AS1   ROS1   RSPH4A   RSPO3   RWDD1   SERINC1   SLC35F1   SMPDL3A   SOGA3   TBC1D32   THEMIS   TPD52L1   TRAPPC3L   TRDN   TRDN-AS1   TRE-CTC1-7   TRMT11   TSPYL1   TSPYL4   VGLL2   ZUP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_115601230)_(128514324_?)del
NC_000006.11:g.(?_115922394)_(128835469_?)del
NC_000006.10:g.(?_116029087)_(128877162_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386115,601,230 - 128,514,324CLINVAR
GRCh376115,922,394 - 128,835,469CLINVAR
Build 366116,029,087 - 128,877,162CLINVAR
Cytogenetic Map66q22.1-22.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619200
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

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