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Variant : CV164988 (GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1) Homo sapiens

Symbol: CV164988
Name: GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1
Condition: See cases [RCV000143301]
Clinical Significance: pathogenic
Last Evaluated: 04/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABI2   ADAM23   ALS2   AOX1   BMPR2   BZW1   BZW1-AS1   C2CD6   C2orf80   CARF   CASP10   CASP8   CCNYL1   CD28   CDK15   CFLAR   CFLAR-AS1   CLK1   CPO   CREB1   CRYGA   CRYGB   CRYGC   CRYGD   CTLA4   CYP20A1   DYTN   EEF1B2   FAM117B   FAM126B   FAM237A   FASTKD2   FLACC1   FZD5   FZD7   GPR1   GPR1-AS   ICA1L   ICOS   IDH1   IDH1-AS1   INO80D   KANSL1L   KANSL1L-AS1   KCTD18   KIAA2012   KIAA2012-AS1   KLF7   LINC01792   LINC01802   LINC01857   MAIP1   MAP2   MDH1B   METTL21A   MIR1302-4   MIR2355   MIR3130-1   MIR3130-2   MIR4775   MIR7845   MPP4   MYOSLID   MYOSLID-AS1   NBEAL1   NDUFB3   NDUFS1   NIF3L1   NOP58   NRP2   ORC2   PARD3B   PIKFYVE   PLEKHM3   PPIL3   PTH2R   RAPH1   RPE   SGO2   SNORA41   SNORD11   SNORD11B   SNORD51   SNORD70   SNORD70B   SPATS2L   STRADB   SUMO1   TMEM237   TRAK2   TYW5   UNC80   WDR12   ZDBF2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_199937273)_(210031924_?)del
Human AssemblyChrPosition (strand)Source
GRCh382199,937,273 - 210,031,924CLINVAR
GRCh372200,801,996 - 210,896,648CLINVAR
Build 362200,510,241 - 210,604,893CLINVAR
Cytogenetic Map22q33.1-34CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490899
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE


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