Genomic variant #0000001420

Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.131284937A>G
DNA change (hg38) g.128522658A>G
Published as c.432-10A>G
ISCN -
DB-ID GLE1_000001
Variant remarks Finnish Major mutation: 52 Finnish LCCS1 patients (51 hom and 1 com-het) and 12 Finnish LAAHD patients (com-het).
Reference PubMed: Nousiainen et al. 2008
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 1/200 FIN (het)
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Function/GVS     
GLE1 NM_001003722.1 +/+ i3 c.433-10A>G - r.[433-10_433ins;433-10a>g] p.Thr144_Glu145insProPheGln - -