Variant #0000016582 (NC_000004.11:g.178359924C>T, AGA(NM_000027.3):c.482G>A)

Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.178359924C>T
DNA change (hg38) g.177438770C>T
Published as -
ISCN -
DB-ID AGA_000001 See all 3 reported entries
Variant remarks Finnish variant; On the same haplotype with Finnish Major mutation.
Reference PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001
ClinVar ID -
dbSNP ID rs192195150
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 ?/? 4 c.482G>A r.482g>a p.Arg161Gln