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Variant : CV511883 (NM_005933.4(KMT2A):c.134del (p.Pro45fs)) Homo sapiens

Symbol: CV511883
Name: NM_005933.4(KMT2A):c.134del (p.Pro45fs)
Condition: Inborn genetic diseases [RCV000622749]
Clinical Significance: pathogenic
Last Evaluated: 07/18/2017
Review Status: criteria provided, single submitter
Related Genes: KMT2A  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000011.9:g.118307361del
LRG_613p1:p.Pro45fs
LRG_613:g.5157del
LRG_613t1:c.134del
NM_001197104.1:c.134del
NM_005933.4:c.134del
NG_027813.1:g.5157del
NC_000011.10:g.118436646del
NP_001184033.1:p.Pro45fs
NP_005924.2:p.Pro45fs
NM_001197104.1:c.134delC
LRG_613t1:c.134del
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,642 - 118,436,642CLINVAR
GRCh3711118,307,357 - 118,307,357CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13530752
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.