Genomic variant #0000074052

Individual ID 00046408
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.31843328del
DNA change (hg38) g.31269191del
Published as -
ISCN -
DB-ID B3GLCT_000014 See all 2 reported entries
Variant remarks rs35261337
Reference -
ClinVar ID -
dbSNP ID rs3215787
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
B3GLCT NM_194318.3 ?/? 7i c.597-23del - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046513 DNA SEQ - - B3GLCT 22 Johan den Dunnen