Variant #0000246886 (NC_000010.10:g.112404362A>T, NM_001134363.1:c.150A>T (RBM20))

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.112404362A>T
DNA change (hg38) g.110644604A>T
Published as RBM20(NM_001134363.1):c.150A>T (p.P50=)
ISCN -
DB-ID RBM20_000029 See all 4 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) 0.00026 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-06-29 10:43:29 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RBM20 NM_001134363.1 -/. - c.150A>T r.(?) p.(Pro50=)


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