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

Variant : CV74454 (GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1) Homo sapiens

Symbol: CV74454
Name: GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|See cases [RCV000053727]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACOT7   CA6   CAMTA1   CAMTA1-IT1   CHD5   DNAJC11   ENO1   ENO1-AS1   ERRFI1   ESPN   GPR153   GPR157   H6PD   HES2   HES3   ICMT   KCNAB2   KLHL21   LINC00337   LINC01672   LINC01714   LNCTAM34A   MIR34A   MIR34AHG   MIR4252   MIR4689   MIR6728   NOL9   NPHP4   PARK7   PER3   PHF13   PLEKHG5   RERE   RNF207   RPL22   SLC2A5   SLC2A7   SLC45A1   SNORD128   SPSB1   TAS1R1   THAP3   TNFRSF25   TNFRSF9   UTS2   VAMP3   ZBTB48  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_5274008)_(9329925_?)del
NC_000001.10:g.(?_5334068)_(9389984_?)del
NC_000001.9:g.(?_5233928)_(9312571_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,274,008 - 9,329,925CLINVAR
GRCh3715,334,068 - 9,389,984CLINVAR
Build 3615,233,928 - 9,312,571CLINVAR
Cytogenetic Map11p36.32-36.22CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620645
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.