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Variant : CV163446 (GRCh38/hg38 16p11.2(chr16:29568699-30166595)x1) Homo sapiens

Symbol: CV163446
Name: GRCh38/hg38 16p11.2(chr16:29568699-30166595)x1
Condition: See cases [RCV000141992]
Clinical Significance: pathogenic
Last Evaluated: 08/19/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CDIPTOSP   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MIR3680-2   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.(?_29568699)_(30166595_?)del
Human AssemblyChrPosition (strand)Source
GRCh381629,568,699 - 30,166,595CLINVAR
GRCh371629,580,020 - 30,177,916CLINVAR
Build 361629,487,521 - 30,085,417CLINVAR
Cytogenetic Map1616p11.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489512
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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