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Variant : CV320509 (NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu)) Homo sapiens

Symbol: CV320509
Name: NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu)
Condition: Benign hereditary chorea [RCV000360874]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000306147]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NKX2-1   SFTA3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_013365.1:g.7277G>T
NC_000014.9:g.36517949C>A
NC_000014.8:g.36987154C>A
NP_001073136.1:p.Val179Leu
NM_001079668.2:c.535G>T
NP_003308.1:p.Val149Leu
NM_003317.4:c.445G>T
NM_001079668.3:c.535G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,517,949 - 36,517,949CLINVAR
GRCh371436,987,154 - 36,987,154CLINVAR
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: 11604106
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.