Variant #0000254543 (NC_000004.11:g.151505226A>G, LRBA(NM_001199282.2):c.6330+3974T>C)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.151505226A>G
DNA change (hg38) g.150584074A>G
Published as MAB21L2(NM_006439.4):c.1045A>G (p.I349V)
ISCN -
DB-ID MAB21L2_000001
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRBA NM_001199282.2 -?/. - c.6330+3974T>C r.(=) p.(=)
MAB21L2 NM_006439.4 -?/. - c.1045A>G r.(?) p.(Ile349Val)