Variant #0000001228 (NC_000007.13:g.117232272_117232273del, CFTR(NM_000492.3):c.2051_2052del)
Individual ID |
00000027 |
Chromosome |
7 |
Allele |
Unknown |
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.117232272_117232273del |
DNA change (hg38) |
g.117592218_117592219del |
Published as |
chr7:g.117019508_117019509delAA |
ISCN |
- |
DB-ID |
CFTR_001005 |
Variant remarks |
- |
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 |
Gerard C.P. Schaafsma |
Database submission license |
No license selected |
Created by |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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