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Variant : CV248117 (GRCh37/hg19 16p11.2(chr16:29646320-30197341)x3) Homo sapiens

Symbol: CV248117
Name: GRCh37/hg19 16p11.2(chr16:29646320-30197341)x3
Condition: See cases [RCV000240419]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SPN   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371629,646,320 - 30,197,341CLINVAR
Cytogenetic Map1616p11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541818
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.