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Variant : CV154329 (GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1) Homo sapiens

Symbol: CV154329
Name: GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1
Condition: See cases [RCV000134057]
Clinical Significance: uncertain significance
Last Evaluated: 10/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: C1QTNF9   C1QTNF9B   LINC00327   LINC00566   MIPEP   MIR2276   PCOTH   SACS   SACS-AS1   SGCG   SPATA13   SPATA13-AS1   TNFRSF19  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_22992950)_(24336636_?)del
NC_000013.10:g.(?_23567089)_(24910774_?)del
NC_000013.9:g.(?_22465089)_(23808774_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381322,992,950 - 24,336,636CLINVAR
GRCh371323,567,089 - 24,910,774CLINVAR
Build 361322,465,089 - 23,808,774CLINVAR
Cytogenetic Map1313q12.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481642
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.