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Variant : CV204977 (NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)) Homo sapiens

Symbol: CV204977
Name: NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)
Condition: Benign hereditary chorea [RCV000288431]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000382830]|Nonmedullary thyroid carcinoma 1 [RCV000576900]
Clinical Significance: pathogenic|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 05/28/2019
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter|no assertion criteria provided
Related Genes: NKX2-1   SFTA3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NC_000014.9:g.36517378G>A
NC_000014.8:g.36986583G>A
NG_013365.1:g.7848C>T
NP_003308.1:p.Ala339Val
NP_001073136.1:p.Ala369Val
NM_003317.4:c.1016C>T
NM_001079668.3:c.1106C>T
NM_003317.3:c.1016C>T
NM_001079668.2:c.1106C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,517,378 - 36,517,378CLINVAR
GRCh371436,986,583 - 36,986,583CLINVAR
Cytogenetic Map1414q13.3CLINVAR
Trait Synonyms: BRAIN-LUNG-THYROID SYNDROME; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION; HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13506340
Created: 2018-02-06
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.