Variant #0000619037 (NC_000023.10:g.135956612_135956613insGTAACTCTCATATGAATC, RBMX(NM_002139.3):c.866-1_866insATTCATATGAGAGTTACG)

Chromosome X
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.135956612_135956613insGTAACTCTCATATGAATC
DNA change (hg38) g.136874453_136874454insGTAACTCTCATATGAATC
Published as RBMX(NM_002139.3):c.866-1_866insATTCATATGAGAGTTACG (p.(Asp283_Tyr288dup))
ISCN -
DB-ID RBMX_000031
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RBMX NM_002139.3 ?/. - c.866-1_866insATTCATATGAGAGTTACG r.spl? p.?