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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BCKDHB NM_000056.3 +/. 5 c.564T>A r.(?) p.(Cys188*)
BCKDHB NM_183050.2 +/. - c.564T>A r.(?) p.(Cys188*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000452965 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing BCKDHB 2 Miriam Erandi Reyna-Fabián


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