Variant #0000291094 (NC_000004.11:g.151773173C>T, LRBA(NM_001199282.2):c.3689G>A)

Chromosome 4
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.151773173C>T
DNA change (hg38) g.150852021C>T
Published as LRBA(NM_001199282.2):c.3689G>A (p.G1230D)
ISCN -
DB-ID LRBA_000027
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) 0.00188 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRBA NM_001199282.2 -/. - c.3689G>A r.(?) p.(Gly1230Asp)
MAB21L2 NM_006439.4 -/. - c.*267912C>T r.(=) p.(=)