GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1Chinchilla Research Resource Database
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Variant : CV170934 (GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1) Homo sapiens

Symbol: CV170934
Name: GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1
CRRD ID: 9684837
Condition: See cases [RCV000148288]
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   BOLA2B   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   LOC101928595   LOC112352679   LOC112352680   LOC116276452   MAPK3   MAZ   MIR3680-2   MVP   NPIPB13   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1A   SLX1A-SULT1A3   SPN   SULT1A3   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.(?_29581462)_(30321260_?)del
NC_000016.9:g.(?_29592783)_(30332581_?)del
NC_000016.8:g.(?_29500284)_(30240082_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,581,462 - 30,321,260CLINVAR
GRCh371629,592,783 - 30,332,581CLINVAR
Build 361629,500,284 - 30,240,082CLINVAR
Cytogenetic Map1616p11.2CLINVAR



Additional References at PubMed
PMID:21844811  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000148288 CLINVAR
NCBI Gene 101928595 CLINVAR
  112352679 CLINVAR
  112352680 CLINVAR
  112694756 CLINVAR
  116276452 CLINVAR
  613037 CLINVAR
  ALDOA CLINVAR
  ASPHD1 CLINVAR
  BOLA2B CLINVAR
  C16orf54 CLINVAR
  C16orf92 CLINVAR
  CDIPT CLINVAR
  CDIPT-AS1 CLINVAR
  CORO1A CLINVAR
  DOC2A CLINVAR
  FAM57B CLINVAR
  GDPD3 CLINVAR
  HIRIP3 CLINVAR
  INO80E CLINVAR
  KCTD13 CLINVAR
  KIF22 CLINVAR
  MAPK3 CLINVAR
  MAZ CLINVAR
  MIR3680-2 CLINVAR
  MVP CLINVAR
  PAGR1 CLINVAR
  PPP4C CLINVAR
  PRRT2 CLINVAR
  QPRT CLINVAR
  SEZ6L2 CLINVAR
  SLX1A CLINVAR
  SLX1A-SULT1A3 CLINVAR
  SPN CLINVAR
  SULT1A3 CLINVAR
  TAOK2 CLINVAR
  TBX6 CLINVAR
  TMEM219 CLINVAR
  YPEL3 CLINVAR
  ZG16 CLINVAR
OMIM 103850 CLINVAR
  182160 CLINVAR
  600641 CLINVAR
  600999 CLINVAR
  601795 CLINVAR
  602035 CLINVAR
  602427 CLINVAR
  603213 CLINVAR
  603365 CLINVAR
  604567 CLINVAR
  605000 CLINVAR
  605088 CLINVAR
  605893 CLINVAR
  606248 CLINVAR
  608947 CLINVAR
  609724 CLINVAR
  612033 CLINVAR
  613199 CLINVAR
  614386 CLINVAR
  615175 CLINVAR
  615822 CLINVAR
  616318 CLINVAR
  616667 CLINVAR
  617311 CLINVAR
  618911 CLINVAR