Variant #0000032148 (NC_000005.9:g.112043180T>G, APC(NM_000038.5):c.-30461T>G)

Individual ID 00012555
Chromosome 5
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.112043180T>G
DNA change (hg38) g.112707483T>G
Published as -47408T>G
ISCN -
DB-ID APC_000418
Variant remarks numbering 5' of ATG
Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Elke Holinski-Feder
Database submission license No license selected
Created by Stefan Aretz
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 ?/. _1 Promotor c.-30461T>G r.(?) p.? - 0.000 substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000012471 DNA SEQ ? screen APC gene (index patient) APC 1 Elke Holinski-Feder