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Variant : CV74996 (GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3) Homo sapiens

Symbol: CV74996
Name: GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|See cases [RCV000054299]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SPN   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29662633)_(30187279_?)dup
NC_000016.9:g.(?_29673954)_(30198600_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,662,633 - 30,187,279CLINVAR
GRCh371629,673,954 - 30,198,600CLINVAR
Cytogenetic Map1616p11.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8621190
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2014-12-02
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.