Variant #0000001535 (NC_000004.11:g.178359918C>G, AGA(NM_000027.3):c.488G>C)

Chromosome 4
Allele Both (homozygous)
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.178359918C>G
DNA change (hg38) g.177438764C>G
Published as AGU FIN
ISCN -
DB-ID AGA_000002 See all 3 reported entries
Variant remarks Finnish Major AGU mutation, in 98% of Finnish AGU patients; Finnish Major AGU mutation. On the same haplotype with c.482G>A (p.Arg161Gln)
Reference PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001
ClinVar ID -
dbSNP ID rs121964904
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00084 View details
Owner Anne Polvi
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +/+ 4 c.488G>C r.488g>c p.Cys163Ser