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Variant : CV72648 (GRCh38/hg38 1p36.22-36.21(chr1:12149586-13111056)x3) Homo sapiens

Symbol: CV72648
Name: GRCh38/hg38 1p36.22-36.21(chr1:12149586-13111056)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051796]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051796]|See cases [RCV000051796]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AADACL3   AADACL4   C1orf158   DHRS3   HNRNPCL1   HNRNPCL3   LINC01784   MIR4632   MIR6730   MIR7846   PRAMEF1   PRAMEF10   PRAMEF11   PRAMEF12   PRAMEF2   PRAMEF25   PRAMEF27   PRAMEF4   PRAMEF6   PRAMEF7   SNORA59A   TNFRSF1B   VPS13D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_12149586)_(13111056_?)dup
NC_000001.10:g.(?_12209643)_(13178528_?)dup
NC_000001.9:g.(?_12132230)_(13101115_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,149,586 - 13,111,056CLINVAR
GRCh37112,209,643 - 13,178,528CLINVAR
Build 36112,132,230 - 13,101,115CLINVAR
Cytogenetic Map11p36.22-36.21CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618808
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.