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Variant : CV75002 (GRCh38/hg38 16p11.2(chr16:29662635-30108438)x1) Homo sapiens

Symbol: CV75002
Name: GRCh38/hg38 16p11.2(chr16:29662635-30108438)x1
Condition: See cases [RCV000054305]
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   ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CDIPTOSP   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   LOC101928595   LOC112352680   LOC116276452   MAZ   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SPN   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29662635)_(30108438_?)del
Human AssemblyChrPosition (strand)Source
GRCh381629,662,635 - 30,108,438CLINVAR
GRCh371629,673,956 - 30,119,759CLINVAR
Build 361629,581,457 - 30,027,260CLINVAR
Cytogenetic Map1616p11.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8621196
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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