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

Variant : CV156002 (GRCh38/hg38 3q27.1(chr3:183747088-184238311)x3) Homo sapiens

Symbol: CV156002
Name: GRCh38/hg38 3q27.1(chr3:183747088-184238311)x3
Condition: See cases [RCV000135560]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 08/22/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCC5   ABCC5-AS1   ABCF3   AP2M1   DVL3   EIF2B5   HTR3C   HTR3D   HTR3E   HTR3E-AS1   MAP6D1   MIR4448   PARL   VWA5B2   YEATS2   YEATS2-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_183747088)_(184238311_?)dup
NC_000003.11:g.(?_183464876)_(183956099_?)dup
NC_000003.10:g.(?_184947570)_(185438793_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383183,747,088 - 184,238,311CLINVAR
GRCh373183,464,876 - 183,956,099CLINVAR
Build 363184,947,570 - 185,438,793CLINVAR
Cytogenetic Map33q27.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483132
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

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