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Variant : CV24018 (NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)) Homo sapiens

Symbol: CV24018
Name: NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)
Condition: Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress [RCV000009542]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000009542]
Clinical Significance: pathogenic
Last Evaluated: 06/19/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NKX2-1   SFTA3  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense|2kb upstream variant
Evidence: literature only
HGVS Name(s): NG_013365.1:g.7355G>T
NC_000014.9:g.36517871C>A
NC_000014.8:g.36987076C>A
NP_003308.1:p.Glu175Ter
NP_001073136.1:p.Glu205Ter
NM_001079668.3:c.613G>T
NM_003317.3:c.523G>T
NM_003317.4:c.523G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,517,871 - 36,517,871CLINVAR
GRCh371436,987,076 - 36,987,076CLINVAR
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: 8598126
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.