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Variant : CV248813 (Single allele) Homo sapiens

Symbol: CV248813
Name: Single allele
Condition: Seizures [RCV000240951]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 04/03/2016
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: CACNA2D1   CACNA2D1-AS1   CD36   DMTF1   GNAI1   GNAT3   GRM3   HGF   KIAA1324L   LINC00972   PCLO   SEMA3A   SEMA3C   SEMA3D   SEMA3E  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: case-control|clinical testing|research
HGVS Name(s): NC_000007.14:g.79708363_87161076del
Position
Human AssemblyChrPosition (strand)Source
GRCh38779,708,363 - 87,161,076CLINVAR
GRCh37779,337,679 - 86,790,392CLINVAR
Cytogenetic Map77q21.11-21.12CLINVAR
Trait Synonyms: Dull intelligence; Epilepsy; Intellectual disability; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation; Poor school performance; Seizure



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541300
Created: 2016-10-11
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.