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Variant : CV511900 (NM_005933.4(KMT2A):c.11521dup (p.Arg3841fs)) Homo sapiens

Symbol: CV511900
Name: NM_005933.4(KMT2A):c.11521dup (p.Arg3841fs)
Condition: Inborn genetic diseases [RCV000622469]
Clinical Significance: pathogenic
Last Evaluated: 08/08/2017
Review Status: criteria provided, single submitter
Related Genes: AP001267.3   KMT2A  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NR_120574.1:n.284dup
NR_120575.1:n.284dup
NC_000011.9:g.118392019dup
LRG_613t1:c.11530dup
NG_027813.1:g.89815dup
NM_001197104.1:c.11530dup
LRG_613:g.89815dup
NM_001197104.1:c.11530dupC
NC_000011.10:g.118521304dup
NM_005933.4:c.11521dup
NR_120576.1:n.116dup
NR_120573.1:n.284dup
NR_120572.1:n.391dup
LRG_613p1:p.Arg3844fs
NP_005924.2:p.Arg3841fs
NP_001184033.1:p.Arg3844fs
LRG_613t1:c.11530dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,521,302 - 118,521,303CLINVAR
GRCh3711118,392,017 - 118,392,018CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13530385
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.