Variant #0000335685 (NC_000023.10:g.135954486_135954488del, RBMX(NM_002139.3):c.*1815_*1817del)

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.135954486_135954488del
DNA change (hg38) g.136872327_136872329del
Published as RBMX(NM_001164803.1):c.559_561del (p.(Tyr187del))
ISCN -
DB-ID RBMX_000021
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RBMX NM_002139.3 ?/. - c.*1815_*1817del r.(=) p.(=)