Variant #0000801527 (NC_000004.11:g.151749312C>T, LRBA(NM_001199282.2):c.5171+20G>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.151749312C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID LRBA_000143
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) 0.00763 View details
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.5171+20G>A r.(=) p.(=)
MAB21L2 NM_006439.4 -/. - c.*244051C>T r.(=) p.(=)