Variant #0000317157 (NC_000009.11:g.131072049C>T, NM_016035.3:c.-13089C>T (COQ4))

Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.131072049C>T
DNA change (hg38) g.128309770C>T
Published as TRUB2(NM_015679.3):c.776G>A (p.R259H)
ISCN -
DB-ID TRUB2_000001
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRUB2 NM_015679.1 ?/. - c.776G>A r.(?) p.(Arg259His)
COQ4 NM_016035.3 ?/. - c.-13089C>T r.(?) p.(=)


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