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

Variant : CV159060 (GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3) Homo sapiens

Symbol: CV159060
Name: GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3
Condition: See cases [RCV000138356]
Clinical Significance: pathogenic|conflicting data from submitters
Last Evaluated: 02/20/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   BAZ1B   BCL7B   BUD23   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2I   GTF2IRD1   LAT2   LIMK1   METTL27   MIR10525   MIR4284   MIR590   MLXIPL   NSUN5   RFC2   STX1A   TBL2   TMEM270   TRIM50   VPS37D  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73280574)_(74727989_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38773,280,574 - 74,727,989 (+)CLINVAR
GRCh37772,685,734 - 74,142,327CLINVAR
Build 36772,323,670 - 73,780,263CLINVAR
Cytogenetic Map77q11.23CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9485905
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.