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

Variant : CV72933 (GRCh38/hg38 14q32.31(chr14:101534151-101561708)x3) Homo sapiens

Symbol: CV72933
Name: GRCh38/hg38 14q32.31(chr14:101534151-101561708)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052091]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052091]|See cases [RCV000052091]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: DIO3   DIO3OS   MIR1247  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_101534151)_(101561708_?)dup
NC_000014.8:g.(?_102000488)_(102028045_?)dup
NC_000014.7:g.(?_101070241)_(101097798_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3814101,534,151 - 101,561,708CLINVAR
GRCh3714102,000,488 - 102,028,045CLINVAR
Build 3614101,070,241 - 101,097,798CLINVAR
Cytogenetic Map1414q32.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619095
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



NHLBI Logo

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