Variant #0000001102 (NC_000011.9:g.5248158T>C)
Individual ID |
00001102, 00001107, 00001108, 00001121, 00001127, 00001130 |
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.5248158T>C |
Reference |
(OMIM 0350);dbSNP;Goncalves J et al.;Gonzalez-Redondo JM et al.; |
DB-ID |
chr11_000133 |
Frequency |
- |
Variant remarks |
IVS-I-2 (T->C); AG^GTTGGT->AGACTGGT beta0 |
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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