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Variant : CV555501 (GRCh37/hg19 16p11.2(chr16:29351826-30332071)x1) Homo sapiens

Symbol: CV555501
Name: GRCh37/hg19 16p11.2(chr16:29351826-30332071)x1
Condition: not provided [RCV000683806]
Clinical Significance: pathogenic
Last Evaluated: 01/05/2018
Review Status: no assertion criteria provided
Related Genes: ALDOA   ASPHD1   BOLA2   BOLA2B   C16orf54   C16orf92   CDIPT   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1A   SLX1B   SPN   SULT1A3   SULT1A4   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371629,351,826 - 30,332,071CLINVAR
Cytogenetic Map1616p11.2CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13797728
Created: 2018-10-09
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.