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Variant : CV49829 (16p11.2 recurrent region (BP4-BP5)) Homo sapiens

Symbol: CV49829
Name: 16p11.2 recurrent region (BP4-BP5)
Condition: 16p11.2 deletion syndrome [RCV000034307]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2011
Review Status: 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: deletion (SO:0000159)
Evidence: curation|literature only
HGVS Name(s): NC_000016.10:g.29638676_30188531del
Human AssemblyChrPosition (strand)Source
GRCh381629,638,676 - 30,188,531CLINVAR
GRCh371629,649,997 - 30,199,852CLINVAR
Cytogenetic Map1616p11.2CLINVAR
Trait Synonyms: 16p11.2 Microdeletion; Chromosome 16p11.2 deletion syndrome; CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
Age Of Onset: childhood
Prevalence: 1-5 / 10 000

Disease Annotations

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8571179
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.