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Variant : CV74346 (GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3) Homo sapiens

Symbol: CV74346
Name: GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3
Condition: See cases [RCV000053617]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABTB2   AL356215.1   APIP   CAT   CD44   COMMD9   EHF   ELF5   FJX1   IFTAP   LDLRAD3   LINC02707   MIR1343   MIR3973   PAMR1   PDHX   PRR5L   RAG1   RAG2   SLC1A2   SNORD164   TRAF6   TRIM44  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_34161694)_(36799127_?)dup
NC_000011.9:g.(?_34183241)_(36820677_?)dup
NC_000011.8:g.(?_34139817)_(36777253_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381134,161,694 - 36,799,127CLINVAR
GRCh371134,183,241 - 36,820,677CLINVAR
Build 361134,139,817 - 36,777,253CLINVAR
Cytogenetic Map1111p13-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620536
Created: 2014-05-13
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.