Variant #0000253434 (NC_000002.11:g.234669473A>G, UGT1A1(NM_000463.2):c.540A>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.234669473A>G
DNA change (hg38) g.233760827A>G
Published as UGT1A1(NM_000463.2):c.540A>G (p.E180=)
ISCN -
DB-ID UGT1A1_000020
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) 0.00215 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UGT1A1 NM_000463.2 -/. - c.540A>G r.(?) p.(Glu180=)
DNAJB3 NM_001001394.3 -/. - c.-16911T>C r.(?) p.(=)
UGT1A4 NM_007120.2 -/. - c.868-6207A>G r.(=) p.(=)
UGT1A10 NM_019075.2 -/. - c.856-6207A>G r.(=) p.(=)
UGT1A8 NM_019076.4 -/. - c.856-6207A>G r.(=) p.(=)
UGT1A7 NM_019077.2 -/. - c.856-6207A>G r.(=) p.(=)
UGT1A5 NM_019078.1 -/. - c.868-6207A>G r.(=) p.(=)
UGT1A3 NM_019093.2 -/. - c.868-6207A>G r.(=) p.(=)
UGT1A9 NM_021027.2 -/. - c.856-6207A>G r.(=) p.(=)
UGT1A6 NM_205862.1 -/. - c.61-6207A>G r.(=) p.(=)