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

Variant : CV170762 (GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1) Homo sapiens

Symbol: CV170762
Name: GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1
Condition: See cases [RCV000148157]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SPN   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29662633)_(30187279_?)del
NC_000016.9:g.(?_29673954)_(30198600_?)del
NC_000016.8:g.(?_29581455)_(30106101_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,662,633 - 30,187,279CLINVAR
GRCh371629,673,954 - 30,198,600CLINVAR
Build 361629,581,455 - 30,106,101CLINVAR
Cytogenetic Map1616p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9684706
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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