Variant #0000849774 (NC_000002.11:g.227985862A>G, NM_000092.4:c.195T>C (COL4A4))
| Chromosome |
2 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.227985862A>G |
| DNA change (hg38) |
- |
| Published as |
COL4A4(NM_000092.4):c.195T>C (p.G65=) |
| ISCN |
- |
| DB-ID |
COL4A4_000006 See all 4 reported entries |
| Variant remarks |
VKGL data sharing initiative Nederland |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
CLASSIFICATION record |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00077 View details |
| Owner |
VKGL-NL_Utrecht |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Utrecht |
| Date created |
2022-05-09 15:40:45 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
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