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Variant : CV429557 (NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro)) Homo sapiens

Symbol: CV429557
Name: NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro)
Condition: Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000500153]
Clinical Significance: likely pathogenic
Last Evaluated: 06/27/2016
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): NG_013365.1:g.7377A>C
NC_000014.9:g.36517849T>G
NC_000014.8:g.36987054T>G
NP_001073136.1:p.Gln212Pro
NM_003317.4:c.545A>C
NM_001079668.3:c.635A>C
NM_001079668.2:c.635A>C
NP_003308.1:p.Gln182Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,517,849 - 36,517,849CLINVAR
GRCh371436,987,054 - 36,987,054CLINVAR
Cytogenetic Map1414q13.3CLINVAR
Trait Synonyms: BRAIN-LUNG-THYROID SYNDROME; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13213554
Created: 2017-09-12
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.