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Variant : CV24021 (NM_001079668.3(NKX2-1):c.464-2A>G) Homo sapiens

Symbol: CV24021
Name: NM_001079668.3(NKX2-1):c.464-2A>G
Condition: Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress [RCV000009545]|Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000009545]
Clinical Significance: pathogenic
Last Evaluated: 06/19/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NKX2-1   SFTA3  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|splice acceptor variant
Nucleotide Change: ivs2as, a-g, -2
Evidence: literature only
HGVS Name(s): NG_013365.1:g.7204A>G
NC_000014.9:g.36518022T>C
NC_000014.8:g.36987227T>C
NM_003317.4:c.374-2A>G
NM_001079668.3:c.464-2A>G
NM_001079668.2:c.464-2A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,518,022 - 36,518,022CLINVAR
GRCh371436,987,227 - 36,987,227CLINVAR
Cytogenetic Map1414q13.3CLINVAR
Trait Synonyms: BRAIN-LUNG-THYROID SYNDROME; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8560816
Created: 2014-05-13
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.