Genomic variant #0000074058

Individual ID 00046358
Chromosome 13
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.31843415G>A
DNA change (hg38) g.31269278G>A
Published as 1020+1G>A
ISCN -
DB-ID B3GLCT_000002 See all 29 reported entries
Variant remarks -
Reference PubMed: Lesnik Oberstein 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00054 View details
Owner Martine van Belzen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
B3GLCT NM_194318.3 ?/? 8i c.660+1G>A - r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046463 RNA RT-PCR;SEQ - - B3GLCT 2 Martine van Belzen