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Variant : CV74994 (GRCh38/hg38 16p11.2(chr16:29662433-30179388)x3) Homo sapiens

Symbol: CV74994
Name: GRCh38/hg38 16p11.2(chr16:29662433-30179388)x3
Condition: Seizures [RCV000054291]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054292]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054292]|See cases [RCV000054291]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|no assertion criteria provided
Related Genes: ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CDIPTOSP   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.(?_29662433)_(30179388_?)dup
NC_000016.9:g.(?_29673754)_(30190709_?)dup
NC_000016.8:g.(?_29581255)_(30098210_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,662,433 - 30,179,388CLINVAR
GRCh371629,673,754 - 30,190,709CLINVAR
Build 361629,581,255 - 30,098,210CLINVAR
Cytogenetic Map1616p11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8621188
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.