Variant #0000528983 (NC_000006.11:g.45514563G>A, NC_000006.11(NM_001024630.3):c.1088-1G>A (RUNX2))

Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45514563G>A
DNA change (hg38) g.45546826G>A
Published as -
ISCN -
DB-ID SUPT3H_000006
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_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 2020-06-19 13:52:45 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RUNX2 NM_001024630.3 +?/. - c.1088-1G>A r.spl? p.?
SUPT3H NM_181356.2 +?/. - c.-169211C>T r.(?) p.(=)


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