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Variant : CV553177 (NM_001197104.1(KMT2A):c.5630C>T (p.Ala1877Val)) Homo sapiens

Symbol: CV553177
Name: NM_001197104.1(KMT2A):c.5630C>T (p.Ala1877Val)
Condition: Intellectual disability [RCV000681496]
Clinical Significance: likely benign
Last Evaluated: 01/01/2017
Review Status: criteria provided, single submitter
Related Genes: KMT2A  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001197104.1:c.5630C>T
LRG_613p1:p.Ala1877Val
LRG_613t1:c.5630C>T
NC_000011.9:g.118367048C>T
NP_001184033.1:p.Ala1877Val
NC_000011.10:g.118496333C>T
LRG_613:g.64844C>T
NG_027813.1:g.64844C>T
NM_005933.4:c.5621C>T
NP_005924.2:p.Ala1874Val
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,496,333 - 118,496,333CLINVAR
GRCh3711118,367,048 - 118,367,048CLINVAR
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
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797974
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-09-08
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.