Variant #0000521789 (NC_000004.11:g.151504333G>A, LRBA(NM_001199282.2):c.6330+4867C>T)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.151504333G>A
DNA change (hg38) g.150583181G>A
Published as -
ISCN -
DB-ID LRBA_000073
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRBA NM_001199282.2 +?/. - c.6330+4867C>T r.(=) p.(=)
MAB21L2 NM_006439.4 +?/. - c.152G>A r.(?) p.(Arg51His)