Variant #0000552670 (NC_000014.8:g.54418865A>G, NM_001202.3:c.76T>C (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.54418865A>G
DNA change (hg38) g.53952147A>G
Published as BMP4(NM_001202.5):c.76T>C (p.L26=), BMP4(NM_001202.6):c.76T>C (p.L26=), BMP4(NM_001347916.1):c.76T>C (p.L26=)
ISCN -
DB-ID BMP4_000031 See all 5 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) 0.00163 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 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMP4 NM_001202.3 -?/. - c.76T>C r.(?) p.(Leu26=)


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