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Variant : CV329289 (NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln)) Homo sapiens

Symbol: CV329289
Name: NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln)
Condition: Benign hereditary chorea [RCV000326231]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000380821]|not provided [RCV000861712]
Clinical Significance: likely benign
Last Evaluated: 04/18/2019
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NKX2-1   NKX2-1-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_013365.1:g.5125G>A
NC_000014.9:g.36520101C>T
NC_000014.8:g.36989306C>T
NP_001073136.1:p.Arg10Gln
NM_001079668.3:c.29G>A
NM_001079668.2:c.29G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,520,101 - 36,520,101CLINVAR
GRCh371436,989,306 - 36,989,306CLINVAR
Cytogenetic Map1414q13.3CLINVAR
Trait Synonyms: BRAIN-LUNG-THYROID SYNDROME; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION; HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
Age Of Onset: childhood|infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11619518
Created: 2017-01-11
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.