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

Variant : CV511885 (NM_005933.4(KMT2A):c.2193del (p.Ser732fs)) Homo sapiens

Symbol: CV511885
Name: NM_005933.4(KMT2A):c.2193del (p.Ser732fs)
Condition: Inborn genetic diseases [RCV000622446]
Clinical Significance: pathogenic
Last Evaluated: 06/05/2015
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): LRG_613p1:p.Ser732fs
LRG_613:g.41863del
LRG_613t1:c.2193del
NM_001197104.1:c.2193del
NM_005933.4:c.2193del
NG_027813.1:g.41863del
NC_000011.10:g.118473352del
NC_000011.9:g.118344067del
NP_001184033.1:p.Ser732fs
NP_005924.2:p.Ser732fs
NM_001197104.1:c.2193delA
LRG_613t1:c.2193del
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,473,352 - 118,473,352CLINVAR
GRCh3711118,344,067 - 118,344,067CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13592837
Created: 2018-05-15
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.