Variant #0000572397 (NC_000022.10:g.50964446A>T, NM_001257988.1:c.1284T>A (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.50964446A>T
DNA change (hg38) g.50526017A>T
Published as -
ISCN -
DB-ID TYMP_000004 See all 2 reported entries
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) 0.11192 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-07-17 16:10:22 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ODF3B NM_001014440.3 -/. - c.*4463T>A r.(=) p.(=)
TYMP NM_001257988.1 -/. - c.1284T>A r.(?) p.(Gly428=)
SCO2 NM_005138.2 -/. - c.-559T>A r.(?) p.(=)
NCAPH2 NM_152299.3 -/. - c.*2642A>T r.(=) p.(=)


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