Genomic variant #0000257558

Chromosome 14
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.105239894C>T
DNA change (hg38) -
Published as AKT1(NM_001014431.2):c.726G>A (p.E242=), AKT1(NM_005163.2):c.726G>A (p.E242=)
ISCN -
DB-ID AKT1_000009 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) 0.20163 View details
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AKT1 NM_005163.2 -/. - c.726G>A benign r.(?) p.(=)