Variant #0000001128 (NC_000011.9:g.5247992G>T)
Individual ID |
00000016, 00000115, 00000516, 00000692, 00000694, 00000695, 00000714, 00000946, 00000966, 00001178, 00001332, 00001564, 00001600, 00001630, 00001773 |
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.5247992G>T |
Reference |
(OMIM 0316);dbSNP;Chen et al. |
DB-ID |
chr11_000215 |
Frequency |
- |
Variant remarks |
Codon 43 (G->T) |
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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