Variant #0000765950 (NC_000014.8:g.54417475C>G, NM_001202.3:c.502G>C (BMP4))

Individual ID 00363772
Chromosome 14
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.54417475C>G
DNA change (hg38) g.53950757C>G
Published as -
ISCN -
DB-ID BMP4_000019 See all 2 reported entries
Variant remarks -
Reference PubMed: Huang 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00014 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-04-30 09:22:49 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMP4 NM_001202.3 +?/. - c.502G>C r.(?) p.(Gly168Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000365000 DNA SEQ-NG - gene panel BMP4 1 LOVD


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