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Variant : CV157153 (GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1) Homo sapiens

Symbol: CV157153
Name: GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1
Condition: See cases [RCV000136596]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALS2   AOX1   BZW1   BZW1-AS1   C2CD6   C2orf69   CASP10   CASP8   CDK15   CFLAR   CFLAR-AS1   CLK1   FAM126B   FLACC1   FTCDNL1   FZD7   KCTD18   KIAA2012   KIAA2012-AS1   LINC01792   LINC01877   MAIP1   MPP4   NDUFB3   NIF3L1   NOP58   ORC2   PPIL3   SATB2   SATB2-AS1   SGO2   SNORD11   SNORD11B   SNORD70   SNORD70B   SPATS2L   STRADB   SUMO1   TMEM237   TRAK2   TYW5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_198767347)_(202353840_?)del
NC_000002.11:g.(?_199632071)_(203218563_?)del
NC_000002.10:g.(?_199340316)_(202926808_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382198,767,347 - 202,353,840CLINVAR
GRCh372199,632,071 - 203,218,563CLINVAR
Build 362199,340,316 - 202,926,808CLINVAR
Cytogenetic Map22q33.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484157
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.