Variant #0000259739 (NC_000004.11:g.178359924C>T, AGA(NM_000027.3):c.482G>A)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.178359924C>T
DNA change (hg38) g.177438770C>T
Published as AGA(NM_000027.3):c.482G>A (p.R161Q)
ISCN -
DB-ID AGA_000001 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 -?/. - c.482G>A r.(?) p.(Arg161Gln)