Variant #0000258637 (NC_000006.11:g.80837253G>T, NC_000006.11(NM_000056.3):c.197-11G>T (BCKDHB))

Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.80837253G>T
DNA change (hg38) g.80127536G>T
Published as BCKDHB(NM_000056.4):c.197-11G>T, BCKDHB(NM_183050.4):c.197-11G>T
ISCN -
DB-ID BCKDHB_000004 See all 4 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) 0.46045 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2018-01-15 20:58:59 +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.197-11G>T r.(=) p.(=)
BCKDHB NM_183050.2 -/. - c.197-11G>T r.(=) p.(=)


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