Variant #0000260046 (NC_000014.8:g.105246565C>T, AKT1(NM_005163.2):c.47-12G>A)

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.105246565C>T
DNA change (hg38) g.104780228C>T
Published as AKT1(NM_005163.2):c.47-12G>A
ISCN -
DB-ID AKT1_000020
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) 8.0E-5 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AKT1 NM_005163.2 -/. - c.47-12G>A r.(=) p.(=)