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Variant : CV72735 (GRCh38/hg38 1q43(chr1:237255048-239452455)x3) Homo sapiens

Symbol: CV72735
Name: GRCh38/hg38 1q43(chr1:237255048-239452455)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051885]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051885]|See cases [RCV000051885]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CHRM3   LINC01139   MIR4428   RYR2   ZP4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_237255048)_(239452455_?)dup
NC_000001.10:g.(?_237418348)_(239615755_?)dup
NC_000001.9:g.(?_235484971)_(237682378_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381237,255,048 - 239,452,455CLINVAR
GRCh371237,418,348 - 239,615,755CLINVAR
Build 361235,484,971 - 237,682,378CLINVAR
Cytogenetic Map11q43CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618896
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.