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Variant : CV382193 (GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1) Homo sapiens

Symbol: CV382193
Name: GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1
Condition: See cases [RCV000448084]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AHSP   ALDOA   ARMC5   ASPHD1   ATP2A1   ATXN2L   BCKDK   BCL7C   BOLA2   BOLA2B   C16orf54   C16orf58   C16orf92   CCDC189   CCNYL3   CD19   CD2BP2   CDIPT   CORO1A   COX6A2   CTF1   DCTPP1   DOC2A   FBRS   FBXL19   FUS   GDPD3   HIRIP3   HSD3B7   INO80E   ITGAD   ITGAL   ITGAM   ITGAX   KAT8   KCTD13   KIF22   LAT   MAPK3   MAZ   MVP   MYLPF   NFATC2IP   ORAI3   PAGR1   PHKG2   PPP4C   PRR14   PRRT2   PRSS36   PRSS53   PRSS8   PYCARD   PYDC1   QPRT   RABEP2   RNF40   SEPHS2   SEPTIN1   SETD1A   SEZ6L2   SH2B1   SLC5A2   SLX1A   SLX1B   SPN   SPNS1   SRCAP   STX1B   STX4   SULT1A3   SULT1A4   TAOK2   TBC1D10B   TBX6   TGFB1I1   TLCD3B   TMEM219   TP53TG3   TP53TG3B   TP53TG3C   TP53TG3D   TRIM72   TUFM   VKORC1   YPEL3   ZG16   ZNF267   ZNF48   ZNF629   ZNF646   ZNF668   ZNF688   ZNF689   ZNF720   ZNF747   ZNF764   ZNF768   ZNF771   ZNF785   ZNF843  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371628,826,162 - 29,043,901CLINVAR
Cytogenetic Map1616p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852795
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-14
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.