Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV335868 (NM_001079668.3(NKX2-1):c.*460del) Homo sapiens

Symbol: CV335868
Name: NM_001079668.3(NKX2-1):c.*460del
Condition: Benign hereditary chorea [RCV000334608]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000286589]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NKX2-1   SFTA3  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_003317.4:c.*460del
NM_001079668.3:c.*460del
NG_013365.1:g.8408del
NC_000014.9:g.36516832del
NC_000014.8:g.36986037del
NM_001079668.2:c.*460delT
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,516,818 - 36,516,818CLINVAR
GRCh371436,986,023 - 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: 11615537
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.