Variant #0000951459 (NC_000020.10:g.57599236A>G, NM_030773.3:c.754A>G (TUBB1))

Chromosome 20
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.57599236A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID ATP5E_000014
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) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2023-11-27 17:35:39 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP5E NM_006886.3 ?/. - c.*4664T>C r.(=) p.(=)
SLMO2 NM_016045.2 ?/. - c.*10826T>C r.(=) p.(=)
TUBB1 NM_030773.3 ?/. - c.754A>G r.(?) p.(Lys252Glu)


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