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Variant : CV157468 (GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3) Homo sapiens

Symbol: CV157468
Name: GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3
Condition: See cases [RCV000136872]
Clinical Significance: benign
Last Evaluated: 01/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALG3   CAMK2N2   CHRD   CLCN2   ECE2   EEF1AKMT4   EEF1AKMT4-ECE2   EIF4G1   FAM131A   POLR2H   PSMD2   SNORD66   THPO   VWA5B2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_184242321)_(184389832_?)dup
NC_000003.11:g.(?_183960109)_(184107620_?)dup
NC_000003.10:g.(?_185442803)_(185590314_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383184,242,321 - 184,389,832CLINVAR
GRCh373183,960,109 - 184,107,620CLINVAR
Build 363185,442,803 - 185,590,314CLINVAR
Cytogenetic Map33q27.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484433
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.