Variant #0000359657 (NC_000014.8:g.54418811C>A, NM_001202.3:c.130G>T (BMP4))

Individual ID 00155750
Chromosome 14
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.54418811C>A
DNA change (hg38) g.53952093C>A
Published as -
ISCN -
DB-ID BMP4_000034 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Thomas Nixon
Database submission license No license selected
Created by Thomas Nixon
Date created 2018-03-29 13:53:13 +02:00 (CEST)
Date last edited 2018-07-03 12:09:05 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMP4 NM_001202.3 +/. 3 c.130G>T r.(130g>u) p.(Gly44*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156616 DNA SEQ-NG-I - - BMP4 1 Thomas Nixon


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