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Variant : CV24020 (NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs)) Homo sapiens

Symbol: CV24020
Name: NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs)
Condition: Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress [RCV000009544]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000009544]
Clinical Significance: pathogenic
Last Evaluated: 04/24/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: NKX2-1   SFTA3  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|frameshift variant
Evidence: clinical testing|literature only
HGVS Name(s): NG_013365.1:g.6122dup
NM_003317.4:c.254dup
NC_000014.9:g.36519109dup
NC_000014.8:g.36988314dup
NM_003317.3:c.254dup
NP_001073136.1:p.Tyr116fs
NP_003308.1:p.Tyr86fs
NM_001079668.3:c.344dup
NM_001079668.2:c.344dupG
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,519,103 - 36,519,104CLINVAR
GRCh371436,988,308 - 36,988,309CLINVAR
Cytogenetic Map1414q13.3CLINVAR
Trait Synonyms: BRAIN-LUNG-THYROID SYNDROME; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8560815
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.