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Variant : CV556474 (Single allele) Homo sapiens

Symbol: CV556474
Name: Single allele
Condition: Intellectual disability [RCV000684766]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ALG11   ARL11   ATP7B   CAB39L   CCDC70   CDADC1   CKAP2   CNMD   CYSLTR2   DHRS12   DLEU1   DLEU2   DLEU7   EBPL   FAM124A   FNDC3A   HNRNPA1L2   INTS6   ITM2B   KCNRG   KPNA3   LINC00558   LPAR6   MED4   MIR15A   MIR16-1   MLNR   NEK3   NEK5   NUDT15   OLFM4   PCDH8   PHF11   PRR20A   PRR20B   PRR20C   PRR20D   PRR20E   RB1   RCBTB1   RCBTB2   RNASEH2B   SERPINE3   SETDB2   SPRYD7   SUCLA2   SUGT1   THSD1   TRIM13   UTP14C   VPS36   WDFY2  
Variant Type: deletion (SO:0000159)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh371348,225,451 - 58,070,399CLINVAR
Cytogenetic Map1313q14.2-21.1CLINVAR
Trait Synonyms: Dull intelligence; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation; Poor school performance

Disease Annotations

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13802106
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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