Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV511896 (NM_005933.4(KMT2A):c.7178_7182dup (p.Glu2395fs)) Homo sapiens

Symbol: CV511896
Name: NM_005933.4(KMT2A):c.7178_7182dup (p.Glu2395fs)
Condition: Inborn genetic diseases [RCV000623008]
Clinical Significance: pathogenic
Last Evaluated: 12/16/2015
Review Status: criteria provided, single submitter
Related Genes: KMT2A  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NG_027813.1:g.71590_71594dup
NC_000011.10:g.118503079_118503083dup
LRG_613t1:c.7187_7191dup
NC_000011.9:g.118373794_118373798dup
NM_001197104.1:c.7187_7191dupCAGAT
NM_001197104.1:c.7187_7191dup
LRG_613:g.71590_71594dup
NP_005924.2:p.Glu2395fs
NP_001184033.1:p.Glu2398fs
NM_005933.4:c.7178_7182dup
LRG_613p1:p.Glu2398fs
LRG_613t1:c.7187_7191dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,503,078 - 118,503,079CLINVAR
GRCh3711118,373,793 - 118,373,794CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13531056
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.