Variant #0000003076 (NC_000001.11:g.24382G>A, NM_174936.3:c.-55015456G>A (PCSK9))

Individual ID 00000795
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.24382G>A
Published as -
Reference Mohd Aminudin Mustapha et al.(2019):https://www.researchgate.net/publication/342730227_Association_of_PCSK9_g24382G_A_with_Increased_Homocysteine_Level_among_Bidayuh_Ethnic_Group_in_Sarawak_Population
DB-ID PCSK9_000008
dbSNP ID -
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 2021-07-19 11:16:06 +08:00 (CST)
Date last edited 2021-07-25 13:20:10 +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     
PCSK9 NM_174936.3 +/. - c.-55015456G>A - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000889 DNA PCR PCSK9 1 Nur Aisyah Athirah