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Variant : CV164915 (GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1) Homo sapiens

Symbol: CV164915
Name: GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1
Condition: See cases [RCV000143228]
Clinical Significance: pathogenic
Last Evaluated: 03/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   ALDOA   ASPHD1   BOLA2   BOLA2-SMG1P6   C16orf54   C16orf92   CDIPT   CDIPTOSP   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   LOC101928595   LOC112352679   LOC112352680   LOC116276452   MAPK3   MAZ   MIR3680-2   MVP   NPIPB12   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1B   SLX1B-SULT1A4   SPN   SULT1A4   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29420891)_(30166595_?)del
Human AssemblyChrPosition (strand)Source
GRCh381629,420,891 - 30,166,595CLINVAR
GRCh371629,432,212 - 30,177,916CLINVAR
Build 361629,339,713 - 30,085,417CLINVAR
Cytogenetic Map1616p11.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9490826
Created: 2014-09-09
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.