Variant #0000370552 (NC_000014.8:g.54416859C>G, NM_001202.3:c.1118G>C (BMP4))

Individual ID 00165243
Chromosome 14
Allele Unknown
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.54416859C>G
DNA change (hg38) g.53950141C>G
Published as g.8592G>C
ISCN -
DB-ID BMP4_000008
Variant remarks not in 1048 control chromosomes
Reference PubMed: Lubbe 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/504 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2011-05-25 11:30:55 +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 +/. 4 c.1118G>C r.(?) p.(Cys373Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000166119 DNA SEQ - - BMP4 1 Gerard C.P. Schaafsma


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