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Variant : CV155828 (GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1) Homo sapiens

Symbol: CV155828
Name: GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1
Condition: See cases [RCV000135403]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANGPTL6   AP1M2   ATG4D   C19orf38   CARM1   CDC37   CDKN2D   COL5A3   DNM2   DNMT1   DOCK6   EIF3G   FBXL12   FDX2   ICAM1   ICAM3   ICAM4   ICAM5   ILF3   ILF3-DT   KANK2   KEAP1   KRI1   LDLR   LDLR-AS1   MIR1181   MIR1238   MIR199A1   MIR4322   MIR4748   MIR5589   MIR638   MIR6793   MIR6886   MRPL4   OLFM2   P2RY11   PDE4A   PIN1   PPAN   PPAN-P2RY11   QTRT1   RAVER1   RDH8   S1PR2   S1PR5   SHFL   SLC44A2   SMARCA4   SNORD105   SNORD105B   SPC24   TIMM29   TMED1   TYK2   UBL5   YIPF2   ZGLP1   ZNF846  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_9735443)_(11228001_?)del
NC_000019.9:g.(?_9846119)_(11338677_?)del
NC_000019.8:g.(?_9707119)_(11199677_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38199,735,443 - 11,228,001CLINVAR
GRCh37199,846,119 - 11,338,677CLINVAR
Build 36199,707,119 - 11,199,677CLINVAR
Cytogenetic Map1919p13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9482976
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.