Genomic variant #0000154075

Individual ID 00095112
Chromosome 9
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.131285095G>A
DNA change (hg38) g.128522816G>A
Published as -
ISCN -
DB-ID GLE1_000008
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Karen Stals




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Function/GVS     
GLE1 NM_001003722.1 +?/. 4 c.581G>A Likely Pathogenic r.(?) p.(Ser194Asn) Probably damaging missense



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095510 DNA SEQ;SEQ-NG Blood - - 2 Karen Stals