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Variant : CV247973 (GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3) Homo sapiens

Symbol: CV247973
Name: GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3
Condition: See cases [RCV000240123]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ALDOA   ASPHD1   BOLA2   C16orf54   C16orf92   CDIPT   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1B   SPN   SULT1A4   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371629,060,171 - 30,197,341CLINVAR
Cytogenetic Map1616p11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541573
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.