Variant #0000000900 (NC_000021.8:g.44488631T>G, NM_000071.2:c.304A>C (CBS))
| Individual ID |
00000034 |
| Chromosome |
21 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.44488631T>G |
| DNA change (hg38) |
g.43068521T>G |
| Published as |
- |
| ISCN |
- |
| DB-ID |
CBS_000001 See all 8 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00284 View details |
| Owner |
Gerard C.P. Schaafsma |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Gerard C.P. Schaafsma |
| Date created |
2011-04-06 16:20:25 +02:00 (CEST) |
| Date last edited |
2025-08-05 00:42:36 +02:00 (CEST) |

Variant on transcripts
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