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Variant : CV320487 (NM_001079668.3(NKX2-1):c.*459_*460dup) Homo sapiens

Symbol: CV320487
Name: NM_001079668.3(NKX2-1):c.*459_*460dup
Condition: Benign hereditary chorea [RCV000378715]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000321812]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NKX2-1   SFTA3  
Variant Type: duplication (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_013365.1:g.8407_8408dup
NM_001079668.3:c.*459_*460dup
NC_000014.9:g.36516831_36516832dup
NC_000014.8:g.36986036_36986037dup
NM_001079668.2:c.*459_*460dupTT
NM_003317.4:c.*459_*460dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,516,817 - 36,516,818CLINVAR
GRCh371436,986,022 - 36,986,023CLINVAR
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: 11635221
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.