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Variant : CV264585 (NM_001197104.1(KMT2A):c.3301C>T (p.Arg1101Ter)) Homo sapiens

Symbol: CV264585
Name: NM_001197104.1(KMT2A):c.3301C>T (p.Arg1101Ter)
Condition: Wiedemann-Steiner syndrome [RCV001254088]|intellectual deficiency [RCV000415284]|not provided [RCV000392937]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 02/28/2020
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: KMT2A  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_001197104.1:c.3301C>T
LRG_613t1:c.3301C>T
LRG_613:g.45460C>T
NG_027813.1:g.45460C>T
NC_000011.10:g.118476949C>T
NC_000011.9:g.118347664C>T
LRG_613p1:p.Arg1101Ter
NP_001184033.1:p.Arg1101Ter
NM_005933.4:c.3301C>T
NP_005924.2:p.Arg1101Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,476,949 - 118,476,949CLINVAR
GRCh3711118,347,664 - 118,347,664CLINVAR
Cytogenetic Map1111q23.3CLINVAR
Trait Synonyms: Growth deficiency and mental retardation with facial dysmorphism



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11634080
Created: 2017-01-11
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.