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Variant : CV555264 (GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3) Homo sapiens

Symbol: CV555264
Name: GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3
Condition: not provided [RCV000683569]
Clinical Significance: likely pathogenic
Last Evaluated: 04/24/2018
Review Status: no assertion criteria provided
Related Genes: ALG11   ATP7B   CCDC70   CKAP2   CNMD   DHRS12   DIAPH3   HNRNPA1L2   INTS6   LINC00558   NEK3   NEK5   OLFM4   PCDH17   PCDH20   PCDH8   PRR20A   PRR20B   PRR20C   PRR20D   PRR20E   SUGT1   TDRD3   THSD1   UTP14C   VPS36   WDFY2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371351,939,350 - 66,854,666CLINVAR
Cytogenetic Map1313q14.3-21.32CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797046
Created: 2018-10-09
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.