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Variant : CV159044 (GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1) Homo sapiens

Symbol: CV159044
Name: GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1
Condition: See cases [RCV000138343]
Clinical Significance: pathogenic|conflicting data from submitters
Last Evaluated: 08/29/2012
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CDIPTOSP   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 loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29645363)_(30186020_?)del
NC_000016.9:g.(?_29656684)_(30197341_?)del
NC_000016.8:g.(?_29564185)_(30104842_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,645,363 - 30,186,020CLINVAR
GRCh371629,656,684 - 30,197,341CLINVAR
Build 361629,564,185 - 30,104,842CLINVAR
Cytogenetic Map1616p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485892
Created: 2014-09-09
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.