Variant #0000001017 (NC_000002.12:g.21043787C>G, APOB(NM_000384.2):c.82+77G>C)

Individual ID 00000200
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.21043787C>G
Published as -
Reference Say-Hean Lye et al. (2013), dbSNP
DB-ID APOB_000005
dbSNP ID rs12720762
Frequency 1/8
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
APOB NM_000384.2 +/. 1i c.82+77G>C - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000215 DNA SEQ-NG-I;SEQ APOB 8 Nuur Athirah Binti Mohd Daud