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Variant : CV157072 (GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1) Homo sapiens

Symbol: CV157072
Name: GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1
Condition: See cases [RCV000136528]
Clinical Significance: uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCDC134   CENPM   CYP2D6   CYP2D7   LINC00634   LINC01315   LOC108348030   LOC110740340   LOC110740341   LOC112695099   LOC112695100   MEI1   MIR33A   MIR378I   NAGA   NDUFA6   NDUFA6-DT   NFAM1   PHETA2   RRP7A   SEPTIN3   SERHL2   SHISA8   SMDT1   SNU13   SREBF2   SREBF2-AS1   TCF20   TNFRSF13C   WBP2NL   XRCC6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_41645339)_(42565798_?)del
NC_000022.10:g.(?_42041343)_(42961804_?)del
NC_000022.9:g.(?_40371289)_(41291748_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382241,645,339 - 42,565,798CLINVAR
GRCh372242,041,343 - 42,961,804CLINVAR
Build 362240,371,289 - 41,291,748CLINVAR
Cytogenetic Map2222q13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484089
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
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.