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 |

Variant on transcripts
Screenings
|
|