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Variant : CV511894 (NM_001197104.1(KMT2A):c.7097A>C (p.Glu2366Ala)) Homo sapiens

Symbol: CV511894
Name: NM_001197104.1(KMT2A):c.7097A>C (p.Glu2366Ala)
Condition: Inborn genetic diseases [RCV000624725]
Clinical Significance: uncertain significance
Last Evaluated: 08/17/2017
Review Status: criteria provided, single submitter
Related Genes: KMT2A  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_005933.4:c.7088A>C
NM_001197104.1:c.7097A>C
LRG_613p1:p.Glu2366Ala
NP_001184033.1:p.Glu2366Ala
NG_027813.1:g.71500A>C
NC_000011.10:g.118502989A>C
LRG_613t1:c.7097A>C
LRG_613:g.71500A>C
NC_000011.9:g.118373704A>C
NP_005924.2:p.Glu2363Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,502,989 - 118,502,989CLINVAR
GRCh3711118,373,704 - 118,373,704CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13532957
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.