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Variant : CV74251 (GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3) Homo sapiens

Symbol: CV74251
Name: GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|See cases [RCV000053506]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADSS2   AHCTF1   AKT3   C1orf100   C1orf229   CATSPERE   CEP170   CNST   COX20   DESI2   EFCAB2   GCSAML   GCSAML-AS1   HNRNPU   KIF26B   KIF28P   LINC01341   LINC01347   LINC01743   LYPD8   MIR3124   MIR3916   MIR4677   NLRP3   OR11L1   OR13G1   OR14A16   OR14A2   OR14C36   OR14I1   OR1C1   OR2AJ1   OR2AK2   OR2B11   OR2C3   OR2G2   OR2G3   OR2G6   OR2L13   OR2L2   OR2L3   OR2L5   OR2L8   OR2M2   OR2M3   OR2M4   OR2M5   OR2M7   OR2T1   OR2T10   OR2T11   OR2T12   OR2T2   OR2T27   OR2T29   OR2T3   OR2T33   OR2T34   OR2T35   OR2T4   OR2T5   OR2T6   OR2T7   OR2T8   OR2W3   OR2W5   OR6F1   PGBD2   SCCPDH   SDCCAG8   SH3BP5L   SMYD3   SNORA100   TFB2M   TRE-CTC2-1   TRIM58   TRL-CAA4-1   VN1R5   ZBTB18   ZNF124   ZNF496   ZNF669   ZNF670   ZNF670-ZNF695   ZNF672   ZNF692   ZNF695  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_243055227)_(248918469_?)dup
NC_000001.10:g.(?_243218529)_(249212668_?)dup
NC_000001.9:g.(?_241285152)_(247179291_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381243,055,227 - 248,918,469CLINVAR
GRCh371243,218,529 - 249,212,668CLINVAR
Build 361241,285,152 - 247,179,291CLINVAR
Cytogenetic Map11q43-44CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620437
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.