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Variant : CV73542 (GRCh38/hg38 20p12.1-11.23(chr20:13160260-17910332)x1) Homo sapiens

Symbol: CV73542
Name: GRCh38/hg38 20p12.1-11.23(chr20:13160260-17910332)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052740]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052740]|See cases [RCV000052740]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BANF2   BFSP1   DSTN   ESF1   FLRT3   ISM1   ISM1-AS1   KIF16B   MACROD2   MACROD2-AS1   MACROD2-IT1   NDUFAF5   OTOR   PCSK2   RRBP1   SEL1L2   SNRPB2   SPTLC3   TASP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_13160260)_(17910332_?)del
NC_000020.10:g.(?_13140907)_(17890976_?)del
NC_000020.9:g.(?_13088907)_(17838976_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382013,160,260 - 17,910,332CLINVAR
GRCh372013,140,907 - 17,890,976CLINVAR
Build 362013,088,907 - 17,838,976CLINVAR
Cytogenetic Map2020p12.1-11.23CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619714
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.