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Variant : CV164942 (GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3) Homo sapiens

Symbol: CV164942
Name: GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3
Condition: See cases [RCV000143255]
Clinical Significance: uncertain significance
Last Evaluated: 01/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC051619.4   C15orf48   DUOX1   DUOX2   DUOXA1   DUOXA2   GATM   MIR147B   SHF   SLC28A2   SLC30A4   SNORA41B   SORD   SPATA5L1   TRH-GTG1-7   TRH-GTG1-8   TRH-GTG1-9  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_45026980)_(45579878_?)dup
NC_000015.9:g.(?_45319178)_(45872076_?)dup
NC_000015.8:g.(?_43106470)_(43659368_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381545,026,980 - 45,579,878CLINVAR
GRCh371545,319,178 - 45,872,076CLINVAR
Build 361543,106,470 - 43,659,368CLINVAR
Cytogenetic Map1515q21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490853
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.