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Variant : CV337824 (NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser)) Homo sapiens

Symbol: CV337824
Name: NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser)
Condition: Benign hereditary chorea [RCV000313152]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000349280]
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:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_013365.1:g.7667G>T
NC_000014.9:g.36517559C>A
NC_000014.8:g.36986764C>A
NP_001073136.1:p.Ala309Ser
NM_003317.4:c.835G>T
NM_001079668.3:c.925G>T
NM_001079668.2:c.925G>T
NP_003308.1:p.Ala279Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,517,559 - 36,517,559CLINVAR
GRCh371436,986,764 - 36,986,764CLINVAR
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: 11653761
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.