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Variant : CV42815 (GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1) Homo sapiens

Symbol: CV42815
Name: GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054252]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054252]|See cases [RCV000054252]
Clinical Significance: pathogenic|uncertain significance|conflicting data from submitters
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   APOBR   ASPHD1   ATP2A1   ATP2A1-AS1   ATXN2L   BOLA2   BOLA2-SMG1P6   C16orf54   C16orf92   CD19   CDIPT   CDIPTOSP   DOC2A   EIF3C   GDPD3   HIRIP3   IL27   INO80E   KCTD13   KIF22   LAT   MAPK3   MAZ   MIR3680-2   MIR4517   MIR4721   MIR6862-2   MVP   NFATC2IP   NPIPB11   NPIPB12   NPIPB8   NPIPB9   NUPR1   PAGR1   PPP4C   PRRT2   QPRT   RABEP2   SEZ6L2   SGF29   SH2B1   SLX1B   SLX1B-SULT1A4   SPN   SPNS1   SULT1A1   SULT1A2   SULT1A4   TAOK2   TBX6   TLCD3B   TMEM219   TUFM   YPEL3   ZG16  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_28492482)_(30179247_?)del
NC_000016.9:g.(?_28503803)_(30190568_?)del
NC_000016.8:g.(?_28411304)_(30098069_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381628,492,482 - 30,179,247CLINVAR
GRCh371628,503,803 - 30,190,568CLINVAR
Build 361628,411,304 - 30,098,069CLINVAR
Cytogenetic Map1616p12.1-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8621160
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.