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Variant : CV163470 (GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3) Homo sapiens

Symbol: CV163470
Name: GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3
Condition: See cases [RCV000142006]
Clinical Significance: pathogenic
Last Evaluated: 08/19/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CRYL1   EEF1AKMT1   FGF9   GJA3   GJB2   GJB6   IFT88   IL17D   LATS2   LINC00350   LINC00367   LINC00408   LINC00421   LINC00424   LINC00442   LINC00539   LINC00540   LINC01046   LINC01072   MICU2   MIR4499   MPHOSPH8   MRPL57   PSPC1   SAP18   SKA3   TPTE2   TUBA3C   XPO4   ZDHHC20   ZMYM2   ZMYM5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_18862146)_(22489174_?)dup
NC_000013.10:g.(?_19436286)_(23063313_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381318,862,146 - 22,489,174CLINVAR
GRCh371319,436,286 - 23,063,313CLINVAR
Build 361318,334,286 - 21,961,313CLINVAR
Cytogenetic Map1313q11-12.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489526
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.