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

Variant : CV214542 (NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter)) Homo sapiens

Symbol: CV214542
Name: NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter)
Condition: Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000201946]|not provided [RCV000760480]
Clinical Significance: pathogenic
Last Evaluated: 12/26/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: NKX2-1   SFTA3  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NG_013365.1:g.7266C>A
NC_000014.9:g.36517960G>T
NC_000014.8:g.36987165G>T
NP_001073136.1:p.Ser175Ter
NM_003317.4:c.434C>A
NM_001079668.3:c.524C>A
NM_001079668.2:c.524C>A
NP_003308.1:p.Ser145Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,517,960 - 36,517,960CLINVAR
GRCh371436,987,165 - 36,987,165CLINVAR
Cytogenetic Map1414q13.3CLINVAR
Trait Synonyms: BRAIN-LUNG-THYROID SYNDROME; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION
Age Of Onset: infancy|neonatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10448841
Created: 2015-12-08
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE



NHLBI Logo

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