Genomic variant #0000262177

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.105238711G>A
DNA change (hg38) g.104772374G>A
Published as AKT1(NM_001014431.2):c.1251C>T (p.Y417=), AKT1(NM_005163.2):c.1251C>T (p.Y417=)
ISCN -
DB-ID AKT1_000003 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) 0.00953 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.1251C>T r.(?) p.(Tyr417=)