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Variant : CV157075 (GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1) Homo sapiens

Symbol: CV157075
Name: GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1
Condition: See cases [RCV000136530]
Clinical Significance: uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AL008638.2   ASPHD2   CRYBA4   CRYBB1   GRK3   HPS4   LINC01422   LINC01638   LINC02554   LINC02559   LOC100507599   LOC105372977   LOC108353816   LOC110091768   LOC110121337   LOC111828507   LOC112694771   LOC112694772   LOC116309128   MIAT   MIATNB   MIR3199-1   MIR3199-2   MIR548J   MN1   MYO18B   MYO18B-AS1   PITPNB   SEZ6L   SEZ6L-AS1   SRRD   TFIP11   TPST2   TTC28   TTC28-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_25685148)_(28217405_?)del
NC_000022.10:g.(?_26081115)_(28613393_?)del
NC_000022.9:g.(?_24411115)_(26943393_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382225,685,148 - 28,217,405CLINVAR
GRCh372226,081,115 - 28,613,393CLINVAR
Build 362224,411,115 - 26,943,393CLINVAR
Cytogenetic Map2222q12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484091
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.