Variant #0000002923 (NC_000019.10:g.15278A>G, STXBP2(NM_001127396.3):c.1567A>G)

Individual ID 00000714
Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.15278A>G
Published as -
Reference Adiratna Mat Ripen et al.(2020)
DB-ID STXBP2_000001 See all 2 reported entries
dbSNP ID rs6791
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
STXBP2 NM_001127396.3 -/. 18 c.1567A>G - r.(?) p.(Ile523Val) Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000805 DNA PCR;SEQ STXBP2 1 Nur Aisyah Athirah