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Variant : CV511898 (NM_005933.4(KMT2A):c.9103_9106del (p.Val3035fs)) Homo sapiens

Symbol: CV511898
Name: NM_005933.4(KMT2A):c.9103_9106del (p.Val3035fs)
Condition: Inborn genetic diseases [RCV000624310]
Clinical Significance: pathogenic
Last Evaluated: 05/10/2016
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.118375719_118375722del
LRG_613p1:p.Val3038fs
NP_005924.2:p.Val3035fs
NP_001184033.1:p.Val3038fs
LRG_613t1:c.9112_9115del
LRG_613:g.73515_73518del
NM_005933.4:c.9103_9106del
NM_001197104.1:c.9112_9115del
NG_027813.1:g.73515_73518del
NC_000011.10:g.118505004_118505007del
NM_001197104.1:c.9112_9115delGTTT
LRG_613t1:c.9112_9115del
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,505,003 - 118,505,006CLINVAR
GRCh3711118,375,718 - 118,375,721CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13532552
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.