Genomic variant #0000288413

Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.131302584G>T
DNA change (hg38) -
Published as GLE1:c.1995G>T (M665I)
ISCN -
DB-ID GLE1_000014
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Function/GVS     
GLE1 NM_001003722.1 ?/. - c.1995G>T VUS r.(?) p.(Met665Ile) - -