Variant #0000248223 (NC_000014.8:g.54417522A>G, NM_001202.3:c.455T>C (BMP4))

Chromosome 14
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.54417522A>G
DNA change (hg38) g.53950804A>G
Published as BMP4(NM_001202.6):c.455T>C (p.V152A), BMP4(NM_001347916.1):c.455T>C (p.V152A)
ISCN -
DB-ID BMP4_000010 See all 6 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) 0.45408 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +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.455T>C r.(?) p.(Val152Ala)


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