Variant #0000573791 (NC_000023.10:g.135957692C>T, RBMX(NM_002139.3):c.594G>A)

Chromosome X
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.135957692C>T
DNA change (hg38) g.136875533C>T
Published as RBMX(NM_001164803.2):c.269G>A (p.R90H)
ISCN -
DB-ID RBMX_000027
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_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RBMX NM_002139.3 -/. - c.594G>A r.(?) p.(Pro198=)