Variant #0000001098 (NC_000001.11:g.55058928G>A, NC_000001.11(NM_174936.3):c.1503+281G>A (PCSK9))

Individual ID 00000216
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.55058928G>A
Published as -
Reference Say-Hean Lye et al. (2013), dbSNP
DB-ID PCSK9_000006
dbSNP ID rs565436
Frequency 1/3
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 14:31:32 +08:00 (CST)
Date last edited 2021-08-23 14:35:24 +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.1503+281G>A - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000231 DNA SEQ-NG-I PCSK9 3 Nuur Athirah Binti Mohd Daud