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Variant : CV424353 (NM_001197104.1(KMT2A):c.3019G>T (p.Gly1007Cys)) Homo sapiens

Symbol: CV424353
Name: NM_001197104.1(KMT2A):c.3019G>T (p.Gly1007Cys)
Condition: Kabuki syndrome 1 [RCV000578132]|Wiedemann-Steiner syndrome [RCV000988747]
Clinical Significance: pathogenic|likely benign
Last Evaluated: 05/28/2019
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|research
HGVS Name(s): NM_001197104.1:c.3019G>T
LRG_613:g.42689G>T
NG_027813.1:g.42689G>T
LRG_613p1:p.Gly1007Cys
NC_000011.10:g.118474178G>T
NP_001184033.1:p.Gly1007Cys
NC_000011.9:g.118344893G>T
LRG_613t1:c.3019G>T
NM_005933.4:c.3019G>T
NP_005924.2:p.Gly1007Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,474,178 - 118,474,178CLINVAR
GRCh3711118,344,893 - 118,344,893CLINVAR
Cytogenetic Map1111q23.3CLINVAR
Trait Synonyms: Growth deficiency and mental retardation with facial dysmorphism



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13509420
Created: 2018-03-06
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.