Variant #0000859252 (NC_000004.11:g.151357970C>T, LRBA(NM_001199282.2):c.6827G>A)

Chromosome 4
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.151357970C>T
DNA change (hg38) -
Published as LRBA(NM_006726.4):c.6860G>A (p.R2287H)
ISCN -
DB-ID LRBA_000149
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) 0.00014 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.6827G>A r.(?) p.(Arg2276His)
MAB21L2 NM_006439.4 ?/. - c.-146212C>T r.(?) p.(=)