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
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