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Variant : CV39107 (NM_005359.5(SMAD4):c.1500A>G (p.Ile500Met)) Homo sapiens

Symbol: CV39107
Name: NM_005359.5(SMAD4):c.1500A>G (p.Ile500Met)
Condition: Myhre syndrome [RCV000023062]|not provided [RCV000059735]
Clinical Significance: pathogenic|not provided
Last Evaluated: 01/31/2017
Review Status: classified by multiple submitters|no assertion criteria provided|no assertion provided|not classified by submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: not provided|literature only
HGVS Name(s): LRG_318t1:c.1500A>G
LRG_318:g.115269A>G
NG_013013.2:g.115269A>G
NC_000018.10:g.51078308A>G
NC_000018.9:g.48604678A>G
LRG_318p1:p.Ile500Met
NP_005350.1:p.Ile500Met
Q13485:p.Ile500Met
NM_005359.5:c.1500A>G
NP_005350.1:p.Ile500Met
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,078,308 - 51,078,308CLINVAR
GRCh371848,604,678 - 48,604,678CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Laryngotracheal stenosis, progressive, with short stature and arthropathy
Age Of Onset: childhood
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8602143
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.