Genomic variant #0000036393

Individual ID 00016592
Chromosome 9
Allele Paternal (confirmed)
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 -
Reference PubMed: Ellard et al 2014
ClinVar ID -
dbSNP ID rs121434407
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00031 View details
Owner Hana Lango-Allen




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.(?) p.(Arg569His) - coding



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016544 DNA SEQ-NG-I - - - 2 Hana Lango-Allen