Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV162491 (GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3) Homo sapiens

Symbol: CV162491
Name: GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3
Condition: See cases [RCV000141255]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 04/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKR1A1   CCDC163   CCDC17   GPBP1L1   IPP   LURAP1   MAST2   MMACHC   NASP   P3R3URF   PIK3R3   POMGNT1   PRDX1   TESK2   TMEM69   TSPAN1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_45469848)_(46220805_?)dup
NC_000001.10:g.(?_45935520)_(46686477_?)dup
NC_000001.9:g.(?_45708107)_(46459064_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38145,469,848 - 46,220,805CLINVAR
GRCh37145,935,520 - 46,686,477CLINVAR
Build 36145,708,107 - 46,459,064CLINVAR
Cytogenetic Map11p34.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488782
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.