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Variant : CV159975 (GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1) Homo sapiens

Symbol: CV159975
Name: GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1
Condition: See cases [RCV000139111]
Clinical Significance: uncertain significance
Last Evaluated: 08/27/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CMSS1   COL8A1   FILIP1L   LNP1   MIR3921   NIT2   TBC1D23   TOMM70  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_99759385)_(100405781_?)del
NC_000003.11:g.(?_99478229)_(100124625_?)del
NC_000003.10:g.(?_100960919)_(101607315_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38399,759,385 - 100,405,781CLINVAR
GRCh37399,478,229 - 100,124,625CLINVAR
Build 363100,960,919 - 101,607,315CLINVAR
Cytogenetic Map33q12.1-12.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486643
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.