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Variant : CV158261 (GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3) Homo sapiens

Symbol: CV158261
Name: GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3
Condition: See cases [RCV000137584]
Clinical Significance: uncertain significance
Last Evaluated: 03/09/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ATP5IF1   DNAJC8   EYA3   MED18   PHACTR4   PTAFR   RAB42   RCC1   SESN2   SMPDL3B   SNHG12   SNHG3   SNORA16A   SNORA44   SNORA61   SNORA73A   SNORA73B   SNORD99   TAF12   TRNAU1AP   XKR8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_27919199)_(28607226_?)dup
NC_000001.10:g.(?_28245710)_(28933738_?)dup
NC_000001.9:g.(?_28118297)_(28806325_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38127,919,199 - 28,607,226CLINVAR
GRCh37128,245,710 - 28,933,738CLINVAR
Build 36128,118,297 - 28,806,325CLINVAR
Cytogenetic Map11p35.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485138
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.