Variant #0000887478 (NC_000006.11:g.80912831C>T, NM_000056.3:c.853C>T (BCKDHB))

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.80912831C>T
DNA change (hg38) -
Published as BCKDHB(NM_183050.4):c.853C>T (p.R285*)
ISCN -
DB-ID BCKDHB_000015 See all 6 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) 4.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2022-11-01 13:01:21 +01:00 (CET)
Date last edited 2024-08-28 13:16:32 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BCKDHB NM_000056.3 +/. - c.853C>T r.(?) p.(Arg285Ter)
BCKDHB NM_183050.2 +/. - c.853C>T r.(?) p.(Arg285Ter)


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