Genomic variant #0000319275

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.234669755del
DNA change (hg38) -
Published as UGT1A1(NM_000463.2):c.822delT (p.F274Lfs*92)
ISCN -
DB-ID UGT1A1_000023
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
UGT1A1 NM_000463.2 +?/. - c.822del likely pathogenic r.(?) p.(Phe274Leufs*92)
DNAJB3 NM_001001394.3 +?/. - c.-17189del likely pathogenic r.(?) p.(=)
UGT1A4 NM_007120.2 +?/. - c.868-5925del likely pathogenic r.(=) p.(=)
UGT1A10 NM_019075.2 +?/. - c.856-5925del likely pathogenic r.(=) p.(=)
UGT1A8 NM_019076.4 +?/. - c.856-5925del likely pathogenic r.(=) p.(=)
UGT1A7 NM_019077.2 +?/. - c.856-5925del likely pathogenic r.(=) p.(=)
UGT1A5 NM_019078.1 +?/. - c.868-5925del likely pathogenic r.(=) p.(=)
UGT1A3 NM_019093.2 +?/. - c.868-5925del likely pathogenic r.(=) p.(=)
UGT1A9 NM_021027.2 +?/. - c.856-5925del likely pathogenic r.(=) p.(=)
UGT1A6 NM_205862.1 +?/. - c.61-5925del likely pathogenic r.(=) p.(=)