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Variant : CV421824 (NM_001197104.1(KMT2A):c.3461G>A (p.Arg1154Gln)) Homo sapiens

Symbol: CV421824
Name: NM_001197104.1(KMT2A):c.3461G>A (p.Arg1154Gln)
Condition: Inborn genetic diseases [RCV000623546]|not provided [RCV000493579]|not specified [RCV000504302]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 05/22/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: KMT2A  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_005933.4:c.3461G>A
NP_005924.2:p.Arg1154Gln
NM_001197104.1:c.3461G>A
LRG_613t1:c.3461G>A
LRG_613:g.46604G>A
NG_027813.1:g.46604G>A
NC_000011.10:g.118478093G>A
NC_000011.9:g.118348808G>A
LRG_613p1:p.Arg1154Gln
NP_001184033.1:p.Arg1154Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,478,093 - 118,478,093CLINVAR
GRCh3711118,348,808 - 118,348,808CLINVAR
Cytogenetic Map1111q23.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12913247
Created: 2017-07-11
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.