Variant #0000262184 (NC_000014.8:g.105241422G>A, AKT1(NM_005163.2):c.558C>T)

Chromosome 14
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.105241422G>A
DNA change (hg38) g.104775085G>A
Published as AKT1(NM_001014431.2):c.558C>T (p.I186=), AKT1(NM_005163.2):c.558C>T (p.I186=)
ISCN -
DB-ID AKT1_000012 See all 2 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) 0.02376 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AKT1 NM_005163.2 -/. - c.558C>T r.(?) p.(Ile186=)