Variant #0000675226 (NC_000012.11:g.25362809_25362810delTT, KRAS(NM_004985.3):c.486_487delAA)

Individual ID 00307145
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.25362809_25362810delTT
DNA change (hg38) -
Published as -
ISCN -
DB-ID KRAS_000041 See all 3 reported entries
Variant remarks -
Reference PubMed: Mendonca 2021
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency 0.582
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Vanessa Mendonça
Database submission license No license selected
Created by Vanessa Mendonça
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KRAS NM_004985.3 +?/. - c.486_487delAA r.(?) p.(Glu162Aspfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308287 DNA SEQ-NG-I blood/FFPE tumor - RB1 23 Vanessa Mendonça