Variant #0000002914 (NC_000004.12:g.150852441G>C, NM_001199282.2:c.3269C>G (LRBA))

Individual ID 00000713
Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.150852441G>C
Published as -
Reference Adiratna Mat Ripen et al.(2020)
DB-ID LRBA_000001 See all 2 reported entries
dbSNP ID rs1782360
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-06-27 12:07:22 +08:00 (CST)
Date last edited 2021-08-01 13:11:55 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
LRBA NM_001199282.2 ?/. 23 c.3269C>G - r.(?) p.(Ala1090Gly) Benign



Screenings


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Genes screened     

Variants found     

Owner     
0000000794 DNA PCR;SEQ LRBA 1 Nur Aisyah Athirah