Variant #0000719774 (NC_000004.11:g.151749473T>C, LRBA(NM_001199282.2):c.5030A>G)

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.151749473T>C
DNA change (hg38) -
Published as LRBA(NM_006726.4):c.5030A>G (p.N1677S)
ISCN -
DB-ID LRBA_000079
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) 0.0011 View details
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.5030A>G r.(?) p.(Asn1677Ser)
MAB21L2 NM_006439.4 ?/. - c.*244212T>C r.(=) p.(=)