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

Variant : CV156026 (GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3) Homo sapiens

Symbol: CV156026
Name: GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3
Condition: See cases [RCV000135580]
Clinical Significance: likely pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRF1   ADGRF2   ADGRF4   ADGRF5   ADGRF5-AS1   ANKRD66   CD2AP   CLIC5   CYP39A1   ENPP4   ENPP5   MEP1A   MIR586   OPN5   PLA2G7   PTCHD4   RCAN2   RUNX2   RUNX2-AS1   SLC25A27   SUPT3H   TDRD6   TNFRSF21  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_44985760)_(47986838_?)dup
NC_000006.11:g.(?_44953497)_(47954574_?)dup
NC_000006.10:g.(?_45061475)_(48062533_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38644,985,760 - 47,986,838CLINVAR
GRCh37644,953,497 - 47,954,574CLINVAR
Build 36645,061,475 - 48,062,533CLINVAR
Cytogenetic Map66p21.1-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483152
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



NHLBI Logo

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