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Variant : CV623381 (NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met)) Homo sapiens

Symbol: CV623381
Name: NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met)
Condition: Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000787030]
Clinical Significance: uncertain significance
Last Evaluated: 03/05/2019
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): NC_000014.9:g.36517786G>A
NM_001079668.3:c.698C>T
NG_013365.1:g.7440C>T
NC_000014.8:g.36986991G>A
NM_001079668.2:c.698C>T
NP_001073136.1:p.Thr233Met
NM_003317.4:c.608C>T
NP_003308.1:p.Thr203Met
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,517,786 - 36,517,786CLINVAR
GRCh371436,986,991 - 36,986,991CLINVAR
Cytogenetic Map1414q13.3CLINVAR
Trait Synonyms: BRAIN-LUNG-THYROID SYNDROME; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14697951
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-02-11
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.