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Variant : CV153916 (GRCh38/hg38 13q12.12(chr13:23106962-23856032)x1) Homo sapiens

Symbol: CV153916
Name: GRCh38/hg38 13q12.12(chr13:23106962-23856032)x1
Condition: See cases [RCV000133647]
Clinical Significance: pathogenic
Last Evaluated: 09/18/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LINC00327   MIPEP   SACS   SACS-AS1   SGCG   TNFRSF19  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_23106962)_(23856032_?)del
NC_000013.10:g.(?_23681101)_(24430171_?)del
NC_000013.9:g.(?_22579101)_(23328171_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381323,106,962 - 23,856,032CLINVAR
GRCh371323,681,101 - 24,430,171CLINVAR
Build 361322,579,101 - 23,328,171CLINVAR
Cytogenetic Map1313q12.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481232
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.