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Variant : CV511884 (NM_001197104.1(KMT2A):c.1522G>T (p.Glu508Ter)) Homo sapiens

Symbol: CV511884
Name: NM_001197104.1(KMT2A):c.1522G>T (p.Glu508Ter)
Condition: Inborn genetic diseases [RCV000622491]
Clinical Significance: pathogenic
Last Evaluated: 10/26/2017
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.1522G>T
NC_000011.10:g.118472681G>T
NC_000011.9:g.118343396G>T
NP_001184033.1:p.Glu508Ter
LRG_613t1:c.1522G>T
LRG_613:g.41192G>T
LRG_613p1:p.Glu508Ter
NG_027813.1:g.41192G>T
NM_005933.4:c.1522G>T
NP_005924.2:p.Glu508Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,472,681 - 118,472,681CLINVAR
GRCh3711118,343,396 - 118,343,396CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13530415
Created: 2018-05-08
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.