Genomic variant #0000074036

Individual ID 00046358
Chromosome 13
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.31821241G>A
DNA change (hg38) g.31247104G>A
Published as 437+5G>A
ISCN -
DB-ID B3GLCT_000003 See all 3 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) Variant not found in online data sets
Owner Martine van Belzen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
B3GLCT NM_194318.3 ?/? 5i c.347+5G>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