Variant #0000262175 (NC_000014.8:g.105239367G>A, AKT1(NM_005163.2):c.1020C>T)

Chromosome 14
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.105239367G>A
DNA change (hg38) g.104773030G>A
Published as AKT1(NM_005163.2):c.1020C>T (p.Y340=)
ISCN -
DB-ID AKT1_000007
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) 0.00361 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AKT1 NM_005163.2 -?/. - c.1020C>T r.(?) p.(Tyr340=)