Variant #0000031415 (NC_000005.9:g.(112073623_112090569)_(112090723_112102022)del, APC(NM_000038.5):c.(-19+1_-18-1)_(135+1_136-1)del)
Individual ID |
00011822 |
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(112073623_112090569)_(112090723_112102022)del |
DNA change (hg38) |
- |
Published as |
exon 4 deletion |
ISCN |
- |
DB-ID |
APC_000534 See all 55 reported entries |
Variant remarks |
- |
Reference |
PubMed: Soravia et al. 1998 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Stefan Aretz |
Database submission license |
No license selected |
Created by |
Stefan Aretz |
Date created |
2011-11-30 15:31:36 +01:00 (CET) |
Date last edited |
2017-07-22 22:05:32 +02:00 (CEST) |

Variant on transcripts
Screenings
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