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Variant : CV511889 (NM_001197104.1(KMT2A):c.3539G>T (p.Gly1180Val)) Homo sapiens

Symbol: CV511889
Name: NM_001197104.1(KMT2A):c.3539G>T (p.Gly1180Val)
Condition: Inborn genetic diseases [RCV000623004]
Clinical Significance: uncertain significance
Last Evaluated: 01/19/2017
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): NG_027813.1:g.46682G>T
LRG_613:g.46682G>T
LRG_613p1:p.Gly1180Val
LRG_613t1:c.3539G>T
NC_000011.10:g.118478171G>T
NC_000011.9:g.118348886G>T
NP_001184033.1:p.Gly1180Val
NM_001197104.1:c.3539G>T
NM_005933.4:c.3539G>T
NP_005924.2:p.Gly1180Val
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,478,171 - 118,478,171CLINVAR
GRCh3711118,348,886 - 118,348,886CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13531051
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.