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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   ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   LOC101928595   LOC112352679   LOC112352680   LOC116276452   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: 2020-11-24
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.