Variant #0000552666 (NC_000014.8:g.54417117C>T, NM_001202.3:c.860G>A (BMP4))

Chromosome 14
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.54417117C>T
DNA change (hg38) g.53950399C>T
Published as BMP4(NM_001202.5):c.860G>A (p.R287H), BMP4(NM_001202.6):c.860G>A (p.R287H), BMP4(NM_001347916.1):c.860G>A (p.R287H)
ISCN -
DB-ID BMP4_000006 See all 4 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) 0.00081 View details
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 2025-02-07 18:57:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMP4 NM_001202.3 -?/. - c.860G>A r.(?) p.(Arg287His)


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