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Variant : CV511899 (NM_005933.4(KMT2A):c.11271del (p.Pro3757_Leu3758insTer)) Homo sapiens

Symbol: CV511899
Name: NM_005933.4(KMT2A):c.11271del (p.Pro3757_Leu3758insTer)
Condition: Inborn genetic diseases [RCV000623990]
Clinical Significance: pathogenic
Last Evaluated: 03/16/2017
Review Status: criteria provided, single submitter
Related Genes: AP001267.3   KMT2A  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_613t1:c.11280del
LRG_613:g.88262del
NM_005933.4:c.11271del
NM_001197104.1:c.11280del
NG_027813.1:g.88262del
NC_000011.10:g.118519751del
NC_000011.9:g.118390466del
LRG_613p1:p.Pro3760_Leu3761insTer
NP_005924.2:p.Pro3757_Leu3758insTer
NP_001184033.1:p.Pro3760_Leu3761insTer
NM_001197104.1:c.11280delC
LRG_613t1:c.11280del
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,519,746 - 118,519,746CLINVAR
GRCh3711118,390,461 - 118,390,461CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13532183
Created: 2018-05-08
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.