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Variant : CV796750 (NM_001042603.3(KDM5A):c.4048C>T (p.Arg1350Ter)) Homo sapiens

Symbol: CV796750
Name: NM_001042603.3(KDM5A):c.4048C>T (p.Arg1350Ter)
Condition: Intellectual disability [RCV001255372]|not provided [RCV000994759]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/03/2020
Review Status: criteria provided, single submitter
Related Genes: KDM5A  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_001042603.3:c.4048C>T
NG_046993.1:g.87484C>T
NC_000012.12:g.306972G>A
NC_000012.11:g.416138G>A
NP_001036068.1:p.Arg1350Ter
NM_001042603.2:c.4048C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3812306,972 - 306,972CLINVAR
GRCh3712416,138 - 416,138CLINVAR
Cytogenetic Map1212p13.33CLINVAR
Trait Synonyms: Dull intelligence; Intellectual functioning disability; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 21074150
Created: 2020-02-11
Species: Homo sapiens
Last Modified: 2020-11-24
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.