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Variant : CV372204 (NM_001197104.1(KMT2A):c.4504C>T (p.Arg1502Ter)) Homo sapiens

Symbol: CV372204
Name: NM_001197104.1(KMT2A):c.4504C>T (p.Arg1502Ter)
Condition: Inborn genetic diseases [RCV000623801]|not provided [RCV000429808]
Clinical Significance: pathogenic
Last Evaluated: 06/01/2020
Review Status: criteria provided, multiple submitters, no conflicts|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.4504C>T
LRG_613t1:c.4504C>T
LRG_613:g.58327C>T
NG_027813.1:g.58327C>T
NC_000011.10:g.118489816C>T
NC_000011.9:g.118360531C>T
LRG_613p1:p.Arg1502Ter
NP_001184033.1:p.Arg1502Ter
NM_005933.4:c.4504C>T
NP_005924.2:p.Arg1502Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,489,816 - 118,489,816CLINVAR
GRCh3711118,360,531 - 118,360,531CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12849431
Created: 2017-04-11
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.