Genomic variant #0000074082

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.31848718G>A
DNA change (hg38) g.31274581G>A
Published as -
ISCN -
DB-ID B3GLCT_000026 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs34830061
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00531 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
B3GLCT NM_194318.3 ?/? 9 c.733G>A - r.(?) p.(Val245Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046513 DNA SEQ - - B3GLCT 22 Johan den Dunnen