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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