Variant #0000001136 (NC_000011.9:g.5248206_5248207insG)
Individual ID |
00000138, 00000832, 00001153 |
Chromosome |
11 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Type |
Insertion |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5248206_5248207insG |
Reference |
Xiong et al |
DB-ID |
chr11_000110 |
Frequency |
- |
Variant remarks |
Codons 14/15 (+G) |
ClassClinical |
Pathogenic |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Qi Ming |
Database submission license |
No license selected |
Created by |
Qi Ming |

Variant on transcripts
Screenings
|
|