Genomic variant #0000001422

Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.131300337G>A
DNA change (hg38) g.128538058G>A
Published as -
ISCN -
DB-ID GLE1_000003 See all 2 reported entries
Variant remarks 6 Finnish LAAHD patients (com-het)
Reference PubMed: Nousiainen et al. 2008
ClinVar ID -
dbSNP ID rs121434408
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
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 +/+ 13 c.1849G>A - r.1849g>a p.Val617Met benign -