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Variant : CV158216 (GRCh38/hg38 3q12.1(chr3:99755242-100236704)x1) Homo sapiens

Symbol: CV158216
Name: GRCh38/hg38 3q12.1(chr3:99755242-100236704)x1
Condition: See cases [RCV000137539]
Clinical Significance: uncertain significance
Last Evaluated: 02/18/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CMSS1   COL8A1   FILIP1L   MIR3921  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_99755242)_(100236704_?)del
NC_000003.11:g.(?_99474086)_(99955548_?)del
NC_000003.10:g.(?_100956776)_(101438238_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38399,755,242 - 100,236,704CLINVAR
GRCh37399,474,086 - 99,955,548CLINVAR
Build 363100,956,776 - 101,438,238CLINVAR
Cytogenetic Map33q12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485094
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.