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

Variant : CV625814 (NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)) Homo sapiens

Symbol: CV625814
Name: NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)
Condition: Choreoathetosis, hypothyroidism, and neonatal respiratory distress [RCV000790468]
Clinical Significance: likely pathogenic
Last Evaluated: 01/18/2019
Review Status: criteria provided, single submitter
Related Genes: NKX2-1   SFTA3  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_001079668.2:c.338_342delTGGGG
NC_000014.9:g.36519107_36519111del
NM_003317.4:c.248_252del
NM_001079668.3:c.338_342del
NG_013365.1:g.6116_6120del
NC_000014.8:g.36988312_36988316del
NP_001073136.1:p.Val113fs
NP_003308.1:p.Val83fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,519,106 - 36,519,110CLINVAR
GRCh371436,988,311 - 36,988,315CLINVAR
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: 14697771
Created: 2019-08-06
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.