Variant #0000528984 (NC_000006.11:g.45514937G>T, NM_001024630.3:c.1461G>T (RUNX2))

Chromosome 6
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.45514937G>T
DNA change (hg38) g.45547200G>T
Published as RUNX2(NM_001024630.3):c.1461G>T (p.L487F)
ISCN -
DB-ID SUPT3H_000007
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RUNX2 NM_001024630.3 ?/. - c.1461G>T r.(?) p.(Leu487Phe)
SUPT3H NM_181356.2 ?/. - c.-169585C>A r.(?) p.(=)


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