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

Variant : CV72319 (GRCh38/hg38 1p36.21(chr1:14750604-15319933)x3) Homo sapiens

Symbol: CV72319
Name: GRCh38/hg38 1p36.21(chr1:14750604-15319933)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051463]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051463]|See cases [RCV000051463]
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: C1orf195   FHAD1   KAZN   TMEM51   TMEM51-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_14750604)_(15319933_?)dup
NC_000001.10:g.(?_15077100)_(15646429_?)dup
NC_000001.9:g.(?_14949687)_(15519016_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38114,750,604 - 15,319,933CLINVAR
GRCh37115,077,100 - 15,646,429CLINVAR
Build 36114,949,687 - 15,519,016CLINVAR
Cytogenetic Map11p36.21CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618479
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE



NHLBI Logo

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