Genomic variant #0000001421

Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.131298693G>A
DNA change (hg38) g.128536414G>A
Published as -
ISCN -
DB-ID GLE1_000002 See all 2 reported entries
Variant remarks 1 Finnish LCCS1 patient (com-het)
Reference PubMed: Nousiainen et al. 2008
ClinVar ID -
dbSNP ID rs121434407
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00031 View details
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 +/+ 12 c.1706G>A - r.1706g>a p.Arg569His probablyDamaging -