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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