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

Variant : CV20668 (NM_000154.2(GALK1):c.238G>T (p.Glu80Ter)) Homo sapiens

Symbol: CV20668
Name: NM_000154.2(GALK1):c.238G>T (p.Glu80Ter)
Condition: Deficiency of galactokinase [RCV000005983]
Clinical Significance: pathogenic
Last Evaluated: 09/07/2006
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: GALK1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: literature only
HGVS Name(s): NG_008079.1:g.6186G>T
NC_000017.11:g.75764014C>A
NC_000017.10:g.73760095C>A
NP_000145.1:p.Glu80Ter
NM_000154.2:c.238G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381775,764,014 - 75,764,014CLINVAR
GRCh371773,760,095 - 73,760,095CLINVAR
Cytogenetic Map1717q25.1CLINVAR
Trait Synonyms: GALACTOSEMIA II
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8596857
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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