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Variant : CV511887 (NM_005933.4(KMT2A):c.2318del (p.Pro773fs)) Homo sapiens

Symbol: CV511887
Name: NM_005933.4(KMT2A):c.2318del (p.Pro773fs)
Condition: Inborn genetic diseases [RCV000623630]
Clinical Significance: pathogenic
Last Evaluated: 10/30/2017
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_000011.10:g.118473477del
LRG_613t1:c.2318del
LRG_613:g.41988del
NM_005933.4:c.2318del
NC_000011.9:g.118344192del
LRG_613p1:p.Pro773fs
NP_001184033.1:p.Pro773fs
NG_027813.1:g.41988del
NM_001197104.1:c.2318del
NP_005924.2:p.Pro773fs
NM_001197104.1:c.2318delC
LRG_613t1:c.2318del
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,473,471 - 118,473,471CLINVAR
GRCh3711118,344,186 - 118,344,186CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13531787
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.