Variant #0000936030 (NC_000006.11:g.80837288del, NM_000056.3:c.221del (BCKDHB))

Individual ID 00438292
Chromosome 6
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.80837288del
DNA change (hg38) g.80127571del
Published as 218delT
ISCN -
DB-ID BCKDHB_000027
Variant remarks ACMG PVS1,PM2,PM3,PM4
Reference PubMed: Chuan 2022
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-10-20 19:13:42 +02:00 (CEST)
Date last edited 2023-10-23 21:47:48 +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.221del r.(?) p.(Phe74Serfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000439774 DNA SEQ;SEQ-NG - WES - 2 Johan den Dunnen


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