Variant #0000795088 (NC_000014.8:g.54416828C>D, NM_001202.3:c.1149G>H (BMP4))

Individual ID 00380391
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.54416828C>D
DNA change (hg38) -
Published as Met383Ile
ISCN -
DB-ID BMP4_000048
Variant remarks -
Reference PubMed: Stoltz 2021
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-08-13 21:11:56 +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.1149G>H r.(?) p.(Met383Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000381605 DNA SEQ;SEQ-NG - WES - 2 Johan den Dunnen


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