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Variant : CV74366 (GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3) Homo sapiens

Symbol: CV74366
Name: GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3
Condition: Nonsyndromic microcephaly [RCV000053637]|See cases [RCV000053637]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANKRD42   CCDC83   CCDC89   CCDC90B   CREBZF   DDIAS   DLG2   DLG2-AS2   FAM181B   GAB2   LINC02720   LINC02728   LINC02734   MIR4300   MIR4300HG   MIR5579   MIR708   NARS2   PCF11   PCF11-AS1   PICALM   PRCP   RAB30   RAB30-DT   SNORA70E   SYTL2   TENM4   TMEM126A   TMEM126B  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_78362208)_(86165380_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381178,362,208 - 86,165,380CLINVAR
GRCh371178,073,254 - 85,876,422CLINVAR
Build 361177,750,902 - 85,554,070CLINVAR
Cytogenetic Map1111q14.1-14.2CLINVAR
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: 8620556
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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