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Variant : CV24015 (NM_001079668.3(NKX2-1):c.703G>T (p.Val235Phe)) Homo sapiens

Symbol: CV24015
Name: NM_001079668.3(NKX2-1):c.703G>T (p.Val235Phe)
Condition: Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress [RCV000009539]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000009539]
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:0001583)
Source: CLINVAR
Molecular Consequence: missense|2kb upstream variant|missense variant
Evidence: literature only
HGVS Name(s): NG_013365.1:g.7445G>T
NC_000014.9:g.36517781C>A
NC_000014.8:g.36986986C>A
NP_001073136.1:p.Val235Phe
NM_003317.4:c.613G>T
NM_001079668.3:c.703G>T
NM_001079668.2:c.703G>T
NP_003308.1:p.Val205Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,517,781 - 36,517,781CLINVAR
GRCh371436,986,986 - 36,986,986CLINVAR
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: 8598125
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.