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Variant : CV551430 (NM_005933.4(KMT2A):c.766dup (p.Ile256fs)) Homo sapiens

Symbol: CV551430
Name: NM_005933.4(KMT2A):c.766dup (p.Ile256fs)
Condition: Intellectual disability [RCV000678480]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: KMT2A  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NP_005924.2:p.Ile256fs
NC_000011.9:g.118342640dup
NM_001197104.1:c.766dup
LRG_613:g.40436dup
NC_000011.10:g.118471925dup
LRG_613t1:c.766dup
NG_027813.1:g.40436dup
NM_005933.4:c.766dup
LRG_613p1:p.Ile256fs
NP_001184033.1:p.Ile256fs
LRG_613t1:c.766dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,471,918 - 118,471,919CLINVAR
GRCh3711118,342,633 - 118,342,634CLINVAR
Cytogenetic Map1111q23.3CLINVAR
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: 13798562
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-09-22
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.