Variant #0000915454 (NC_000021.8:g.36259270C>T, NM_001754.4:c.221G>A (RUNX1))

Chromosome 21
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.36259270C>T
DNA change (hg38) -
Published as RUNX1(NM_001001890.3):c.140G>A (p.G47D)
ISCN -
DB-ID RUNX1_000034
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_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2023-01-11 15:44:22 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RUNX1 NM_001754.4 -?/. - c.221G>A r.(?) p.(Gly74Asp)


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