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Variant : CV170684 (GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1) Homo sapiens

Symbol: CV170684
Name: GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1
Condition: See cases [RCV000148095]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|criteria provided, multiple submitters, no conflicts|criteria provided, 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   NPIPB11   NPIPB12   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1B   SLX1B-SULT1A4   SPN   SULT1A4   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.(?_29227272)_(30179247_?)del
NC_000016.9:g.(?_29238593)_(30190568_?)del
NC_000016.8:g.(?_29146094)_(30098069_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,227,272 - 30,179,247CLINVAR
GRCh371629,238,593 - 30,190,568CLINVAR
Build 361629,146,094 - 30,098,069CLINVAR
Cytogenetic Map1616p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9684644
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2020-11-24
Status: ACTIVE



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