Variant #0000001084 (NC_000011.9:g.5248155G>C)
Individual ID |
00001098, 00001101, 00001105, 00001106, 00001109, 00001113, 00001122, 00001123, 00001125, 00001131, 00001133, 00001135, 00001139, 00001140, 00001144 |
Chromosome |
11 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Type |
Substitution |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5248155G>C |
Reference |
(OMIM 0357);dbSNP;Kulozik AE et al.;Treisman R et al.;Divoky V et al.;Kazazian HH Jr et al.; |
DB-ID |
chr11_000136 |
Frequency |
- |
Variant remarks |
IVS-I-5 (G->C) beta+ (severe) |
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
|
|