Genomic variant #0000055891

Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.234669457T>A
DNA change (hg38) g.233760811T>A
Published as -
ISCN -
DB-ID UGT1A1_000011
Variant remarks Phenotype: Crigler Najjar Syndrome type II
Reference PubMed: Seppen J et al. 1994
ClinVar ID -
dbSNP ID rs72551341
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Giulia Canu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UGT1A1 NM_000463.2 +/+ 1 c.524T>A r.(?) p.(Leu175Gln)