Variant #0000001092 (NC_000002.12:g.21039884G>A, NC_000002.12(NM_000384.2):c.383+1054C>T (APOB))

Individual ID 00000214
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.21039884G>A
Published as -
Reference Livy Alex et al. (2012), dbSNP
DB-ID APOB_000033
dbSNP ID rs12720789
Frequency 1/17
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-03 10:20:04 +08:00 (CST)
Date last edited 2021-08-23 14:26:15 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
APOB NM_000384.2 +?/. 4i c.383+1054C>T - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000229 DNA SEQ-NG-I APOB 17 Nuur Athirah Binti Mohd Daud