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Variant : CV337827 (NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=)) Homo sapiens

Symbol: CV337827
Name: NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=)
Condition: Benign hereditary chorea [RCV000385014]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000271956]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NKX2-1   SFTA3  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_013365.1:g.5979G>A
NC_000014.9:g.36519247C>T
NC_000014.8:g.36988452C>T
NP_001073136.1:p.Pro67=
NM_003317.4:c.111G>A
NM_001079668.3:c.201G>A
NM_001079668.2:c.201G>A
NP_003308.1:p.Pro37=
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,519,247 - 36,519,247CLINVAR
GRCh371436,988,452 - 36,988,452CLINVAR
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

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11613885
Created: 2017-01-11
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.