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Variant : CV156058 (GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3) Homo sapiens

Symbol: CV156058
Name: GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3
Condition: See cases [RCV000135612]
Clinical Significance: likely benign
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: C1QTNF9   C1QTNF9B   LINC00327   LINC00566   LINC00621   MIPEP   MIR2276   PARP4   PCOTH   SACS   SACS-AS1   SGCG   SPATA13   SPATA13-AS1   TNFRSF19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_22764286)_(24444616_?)dup
NC_000013.10:g.(?_23338425)_(25018754_?)dup
NC_000013.9:g.(?_22236425)_(23916754_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381322,764,286 - 24,444,616CLINVAR
GRCh371323,338,425 - 25,018,754CLINVAR
Build 361322,236,425 - 23,916,754CLINVAR
Cytogenetic Map1313q12.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483184
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.