Variant #0000987407 (NC_000006.11:g.80878678T>A, NM_000056.3:c.564T>A (BCKDHB))
| Individual ID |
00451365 |
| Chromosome |
6 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.80878678T>A |
| DNA change (hg38) |
g.80168961T>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
BCKDHB_000032 See all 2 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
ClinVar-580585 |
| dbSNP ID |
rs774306610 |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
| Owner |
Miriam Erandi Reyna-Fabián |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Miriam Erandi Reyna-Fabián |
| Date created |
2024-05-31 21:00:35 +02:00 (CEST) |
| Date last edited |
2024-06-04 14:02:19 +02:00 (CEST) |

Variant on transcripts
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