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Variant : CV178383 (NM_005933.4(KMT2A):c.2233C>T (p.Arg745Ter)) Homo sapiens

Symbol: CV178383
Name: NM_005933.4(KMT2A):c.2233C>T (p.Arg745Ter)
Condition: Cornelia de Lange syndrome 1 [RCV000157053]|not provided [RCV000599517]
Clinical Significance: pathogenic
Last Evaluated: 02/15/2018
Review Status: classified by single submitter|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|research
HGVS Name(s): NG_027813.1:g.41903C>T
NC_000011.10:g.118473392C>T
NC_000011.9:g.118344107C>T
NP_001184033.1:p.Arg745Ter
NP_005924.2:p.Arg745Ter
NM_001197104.1:c.2233C>T
LRG_613t1:c.2233C>T
LRG_613:g.41903C>T
LRG_613p1:p.Arg745Ter
NM_005933.4:c.2233C>T
NM_005933.3:c.2233C>T
LRG_613t1:c.2233C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,473,392 - 118,473,392CLINVAR
GRCh3711118,344,107 - 118,344,107CLINVAR
Cytogenetic Map1111q23.3CLINVAR
Trait Synonyms: Brachmann de Lange syndrome; Typus degenerativus amstelodamensis
Age Of Onset: antenatal|neonatal/infancy
Prevalence: cornelia de lange syndrome occurs in 1 in 10-100,000 live births.



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9693713
Created: 2015-02-11
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.