Variant #0000959355 (NC_000020.10:g.2641197G>A, NM_006899.3:c.571C>T (IDH3B))

Individual ID 00447571
Chromosome 20
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.2641197G>A
DNA change (hg38) g.2660551G>A
Published as -
ISCN -
DB-ID IDH3B_000044
Variant remarks ACMG PM2, PVS1
Reference PubMed: Weisschuh 2024
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-01-26 10:23:59 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDH3B NM_006899.3 +?/. - c.571C>T r.(?) p.(Arg191Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000449148 DNA SEQ-NG - WGS - 4 Johan den Dunnen


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