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Variant : CV154341 (GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3) Homo sapiens

Symbol: CV154341
Name: GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3
Condition: See cases [RCV000134066]
Clinical Significance: pathogenic
Last Evaluated: 05/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTBL2   C5orf64   DEPDC1B   ELOVL7   ERCC8   ERCC8-AS1   GAPT   GPBP1   LINC02057   LINC02101   LINC02108   LINC02225   MIER3   MIR548AE2   MIR582   NDUFAF2   PART1   PDE4D   PLK2   RAB3C   SMIM15   SMIM15-AS1   ZSWIM6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_56947850)_(61725401_?)dup
NC_000005.9:g.(?_56243677)_(61021228_?)dup
NC_000005.8:g.(?_56279434)_(61056985_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38556,947,850 - 61,725,401CLINVAR
GRCh37556,243,677 - 61,021,228CLINVAR
Build 36556,279,434 - 61,056,985CLINVAR
Cytogenetic Map55q11.2-12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481651
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.