Variant #0000693042 (NC_000021.8:g.36164486G>C, NM_001754.4:c.1389C>G (RUNX1))

Chromosome 21
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.36164486G>C
DNA change (hg38) -
Published as RUNX1(NM_001001890.2):c.1308C>G (p.(=)), RUNX1(NM_001754.4):c.1389C>G (p.P463=)
ISCN -
DB-ID RUNX1_000001 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) 0.03101 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 2020-09-15 15:50:26 +02:00 (CEST)
Date last edited 2023-04-16 21:50:28 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RUNX1 NM_001754.4 -/. - c.1389C>G r.(?) p.(Pro463=)


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