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Variant : CV164351 (GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1) Homo sapiens

Symbol: CV164351
Name: GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1
Condition: See cases [RCV000142664]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC009227.1   ACVR1   ACVR1C   ARL6IP6   BAZ2B   CACNB4   CCDC148   CCDC148-AS1   CYTIP   DAPL1   ERMN   FMNL2   GALNT13   GALNT5   GPD2   KCNJ3   LINC01876   MIR6888   NR4A2   PKP4   PKP4-AS1   PRPF40A   RPRM   STAM2   TANC1   TRA-CGC3-1   TRG-GCC2-2   UPP2   WDSUB1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_151932344)_(159419734_?)del
NC_000002.11:g.(?_152788858)_(160276245_?)del
NC_000002.10:g.(?_152497104)_(159984491_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382151,932,344 - 159,419,734CLINVAR
GRCh372152,788,858 - 160,276,245CLINVAR
Build 362152,497,104 - 159,984,491CLINVAR
Cytogenetic Map22q23.3-24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490262
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.