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Variant : CV74954 (GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1) Homo sapiens

Symbol: CV74954
Name: GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1
Condition: Chiari malformation type II [RCV000054237]|See cases [RCV000054237]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADRA1A   BNIP3L   CCDC25   CDCA2   CHRNA2   CLU   DCTN6   DOCK5   DPYSL2   DUSP4   EBF2   ELP3   EPHX2   ESCO2   EXTL3   EXTL3-AS1   FBXO16   FZD3   GNRH1   GSR   GTF2E2   HMBOX1   INTS9   KCTD9   KIF13B   LEPROTL1   LINC00589   LINC02099   LINC02209   MBOAT4   MIR3148   MIR3622A   MIR3622B   MIR4287   MIR4288   MIR548H4   MIR6841   MIR6842   MIR6843   MIR6876   NEFL   NEFM   NUGGC   PBK   PNMA2   PNOC   PPP2CB   PPP2R2A   PTK2B   PURG   RBPMS   RBPMS-AS1   SARAF   SCARA3   SCARA5   SMIM18   STMN4   TEX15   TRIM35   UBXN8   WRN   ZNF395  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_24910364)_(31210737_?)del
Human AssemblyChrPosition (strand)Source
GRCh38824,910,364 - 31,210,737CLINVAR
GRCh37824,767,877 - 31,068,253CLINVAR
Build 36824,823,781 - 31,187,795CLINVAR
Cytogenetic Map88p21.2-12CLINVAR
Age Of Onset: childhood
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8621147
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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