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Variant : CV264455 (NM_001197104.1(KMT2A):c.5251A>T (p.Lys1751Ter)) Homo sapiens

Symbol: CV264455
Name: NM_001197104.1(KMT2A):c.5251A>T (p.Lys1751Ter)
Condition: Inborn genetic diseases [RCV000624173]|not provided [RCV000277593]
Clinical Significance: pathogenic
Last Evaluated: 10/10/2017
Review Status: criteria provided, single submitter
Related Genes: KMT2A  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_001197104.1:c.5251A>T
LRG_613t1:c.5251A>T
LRG_613:g.62871A>T
NG_027813.1:g.62871A>T
NC_000011.10:g.118494360A>T
NC_000011.9:g.118365075A>T
LRG_613p1:p.Lys1751Ter
NP_001184033.1:p.Lys1751Ter
NM_005933.4:c.5242A>T
NP_005924.2:p.Lys1748Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,494,360 - 118,494,360CLINVAR
GRCh3711118,365,075 - 118,365,075CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11632674
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-09-29
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.