Variant #0001013686 (NC_000002.11:g.234628292A>C, NM_000463.2:c.-40642A>C (UGT1A1))

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.234628292A>C
DNA change (hg38) -
Published as UGT1A4(NM_007120.3):c.826A>C (p.I276L)
ISCN -
DB-ID UGT1A1_000191
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0016 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2024-10-29 20:49:11 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
UGT1A1 NM_000463.2 ?/. - c.-40642A>C - r.(?) p.(=)
DNAJB3 NM_001001394.3 ?/. - c.*23833T>G - r.(=) p.(=)
UGT1A6 NM_001072.3 ?/. - c.861+25781A>C - r.(=) p.(=)
UGT1A4 NM_007120.2 ?/. - c.826A>C - r.(?) p.(Ile276Leu)
UGT1A10 NM_019075.2 ?/. - c.856-47388A>C - r.(=) p.(=)
UGT1A8 NM_019076.4 ?/. - c.856-47388A>C - r.(=) p.(=)
UGT1A7 NM_019077.2 ?/. - c.855+36854A>C - r.(=) p.(=)
UGT1A5 NM_019078.1 ?/. - c.867+5788A>C - r.(=) p.(=)
UGT1A3 NM_019093.2 ?/. - c.-9481A>C - r.(?) p.(=)
UGT1A9 NM_021027.2 ?/. - c.855+46857A>C - r.(=) p.(=)
UGT1A6 NM_205862.1 ?/. - c.60+25781A>C - r.(=) p.(=)


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