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Variant : CV74971 (GRCh38/hg38 16p11.2(chr16:29566441-30187279)x1) Homo sapiens

Symbol: CV74971
Name: GRCh38/hg38 16p11.2(chr16:29566441-30187279)x1
Condition: See cases [RCV000054258]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, 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   MIR3680-2   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.(?_29566441)_(30187279_?)del
NC_000016.9:g.(?_29577762)_(30198600_?)del
NC_000016.8:g.(?_29485263)_(30106101_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,566,441 - 30,187,279CLINVAR
GRCh371629,577,762 - 30,198,600CLINVAR
Build 361629,485,263 - 30,106,101CLINVAR
Cytogenetic Map1616p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8621165
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
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.