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Variant : CV205267 (NM_005933.4(KMT2A):c.1868del (p.Lys623fs)) Homo sapiens

Symbol: CV205267
Name: NM_005933.4(KMT2A):c.1868del (p.Lys623fs)
Condition: Inborn genetic diseases [RCV000190780]
Clinical Significance: pathogenic
Last Evaluated: 03/31/2014
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: KMT2A  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_613t1:c.1868del
LRG_613:g.41538del
NM_001197104.1:c.1868del
NM_005933.4:c.1868del
NG_027813.1:g.41538del
NC_000011.10:g.118473027del
NC_000011.9:g.118343742del
LRG_613p1:p.Lys623fs
NP_001184033.1:p.Lys623fs
NP_005924.2:p.Lys623fs
NM_001197104.1:c.1868delA
LRG_613t1:c.1868del
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,473,025 - 118,473,025CLINVAR
GRCh3711118,343,740 - 118,343,740CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10401571
Created: 2015-10-06
Species: Homo sapiens
Last Modified: 2020-09-08
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.