Genomic variant #0000515162

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.234669773C>A
DNA change (hg38) -
Published as UGT1A1(NM_000463.2):c.840C>A (p.C280*)
ISCN -
DB-ID UGT1A1_000059
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
UGT1A1 NM_000463.2 +/. - c.840C>A pathogenic r.(?) p.(Cys280*)
DNAJB3 NM_001001394.3 +/. - c.-17211G>T pathogenic r.(?) p.(=)
UGT1A4 NM_007120.2 +/. - c.868-5907C>A pathogenic r.(=) p.(=)
UGT1A10 NM_019075.2 +/. - c.856-5907C>A pathogenic r.(=) p.(=)
UGT1A8 NM_019076.4 +/. - c.856-5907C>A pathogenic r.(=) p.(=)
UGT1A7 NM_019077.2 +/. - c.856-5907C>A pathogenic r.(=) p.(=)
UGT1A5 NM_019078.1 +/. - c.868-5907C>A pathogenic r.(=) p.(=)
UGT1A3 NM_019093.2 +/. - c.868-5907C>A pathogenic r.(=) p.(=)
UGT1A9 NM_021027.2 +/. - c.856-5907C>A pathogenic r.(=) p.(=)
UGT1A6 NM_205862.1 +/. - c.61-5907C>A pathogenic r.(=) p.(=)