Variant #0000003764 (NC_000001.11:c.4G>A)
| Chromosome |
1 |
| Allele |
Maternal (confirmed) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| DNA change (genomic) (Relative to hg38 / GRCh38) |
c.4G>A |
| Published as |
CD 1 GTG>ATG |
| Reference |
ClinVar(OMIM 0266) |
| DB-ID |
chr1_000007 |
| dbSNP ID |
rs33958358 |
| Frequency |
- |
| Variant remarks |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Mohamad Fouzul Bin Mohd Yusoff |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Mohamad Fouzul Bin Mohd Yusoff |
Variant on transcripts
Screenings
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