Variant #0000577969 (NC_000005.9:g.112102090del, APC(NM_000038.5):c.203del)

Individual ID 00248138
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.112102090del
DNA change (hg38) g.112766393del
Published as -
ISCN -
DB-ID APC_001820
Variant remarks ACMG grading: PM2,PVS1; classical FAP at age 58y
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

Exon_old     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     
APC NM_000038.5 +?/. - - c.203del r.(?) p.Leu68Tyrfs*2 - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249243 DNA SEQ-NG-S - - - 1 Andreas Laner