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Variant : CV74406 (GRCh38/hg38 1q24.3(chr1:171953097-172164645)x1) Homo sapiens

Symbol: CV74406
Name: GRCh38/hg38 1q24.3(chr1:171953097-172164645)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053679]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053679]|See cases [RCV000053679]
Clinical Significance: benign
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: DNM3   DNM3OS   MIR199A2   MIR214   MIR3120  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_171953097)_(172164645_?)del
NC_000001.10:g.(?_171922237)_(172133785_?)del
NC_000001.9:g.(?_170188860)_(170400408_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381171,953,097 - 172,164,645CLINVAR
GRCh371171,922,237 - 172,133,785CLINVAR
Build 361170,188,860 - 170,400,408CLINVAR
Cytogenetic Map11q24.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620597
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.