Variant #0001006253 (NC_000022.10:g.50962065G>A, NM_001257988.1:c.*2134C>T (TYMP))

Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.50962065G>A
DNA change (hg38) -
Published as SCO2(NM_005138.2):c.776C>T (p.(Ala259Val))
ISCN -
DB-ID NCAPH2_000057
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) 0.0023 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-08-28 13:16:32 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TYMP NM_001257988.1 -/. - c.*2134C>T r.(=) p.(=)
SCO2 NM_005138.2 -/. - c.776C>T r.(?) p.(Ala259Val)
NCAPH2 NM_152299.3 -/. - c.*261G>A r.(=) p.(=)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.