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) 0.00087 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.482G>A r.482g>a p.Arg161Gln