Variant #0000001098 (NC_000011.9:g.5247802G>C)
Individual ID |
00000028, 00000118, 00000144, 00000750, 00000961, 00000963, 00001022, 00001207, 00001520, 00001633, 00001647, 00001650, 00001668, 00001952, 00001953 |
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.5247802G>C |
Reference |
dbSNP;Chen et al. |
DB-ID |
chr11_000467 |
Frequency |
- |
Variant remarks |
IVS-II-5 (G->C) |
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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