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

Variant : CV154281 (GRCh38/hg38 8p23.1(chr8:7256134-8023794)x1) Homo sapiens

Symbol: CV154281
Name: GRCh38/hg38 8p23.1(chr8:7256134-8023794)x1
Condition: See cases [RCV000134012]
Clinical Significance: benign
Last Evaluated: 06/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB4A   DEFB4B   FAM66B   FAM66E   LINC00965   PRR23D1   PRR23D2   SPAG11A   SPAG11B   USP17L1   USP17L3   USP17L4   USP17L8   ZNF705B   ZNF705G  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7256134)_(8023794_?)del
NC_000008.10:g.(?_7113656)_(7881316_?)del
NC_000008.9:g.(?_7101066)_(7918726_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3887,256,134 - 8,023,794CLINVAR
GRCh3787,113,656 - 7,881,316CLINVAR
Build 3687,101,066 - 7,918,726CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481597
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

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