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

Variant : CV73330 (GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1) Homo sapiens

Symbol: CV73330
Name: GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1
Condition: Obesity [RCV000052520]|See cases [RCV000052520]
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   APOBR   ASPHD1   ATP2A1   ATP2A1-AS1   ATXN2L   BOLA2   BOLA2-SMG1P6   BOLA2B   C16orf54   C16orf92   CD19   CDIPT   CDIPTOSP   CLN3   CORO1A   DOC2A   EIF3C   GDPD3   HIRIP3   IL27   INO80E   KCTD13   KIF22   LAT   MAPK3   MAZ   MIR3680-2   MIR4517   MIR4721   MIR6862-2   MVP   NFATC2IP   NPIPB11   NPIPB12   NPIPB13   NPIPB8   NPIPB9   NUPR1   PAGR1   PPP4C   PRRT2   QPRT   RABEP2   SEZ6L2   SGF29   SH2B1   SLX1A   SLX1A-SULT1A3   SLX1B   SLX1B-SULT1A4   SPN   SPNS1   SULT1A1   SULT1A2   SULT1A3   SULT1A4   TAOK2   TBX6   TLCD3B   TMEM219   TUFM   YPEL3   ZG16  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_28456967)_(30295107_?)del
Human AssemblyChrPosition (strand)Source
GRCh381628,456,967 - 30,295,107CLINVAR
GRCh371628,468,288 - 30,306,428CLINVAR
Build 361628,375,789 - 30,213,929CLINVAR
Cytogenetic Map1616p12.1-11.2CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8619498
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-04
Status: ACTIVE


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