Variant #0000001094 (NC_000001.11:g.55053886C>G, NC_000001.11(NM_174936.3):c.799+1095C>G (PCSK9))

Individual ID 00000215
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.55053886C>G
Published as -
Reference Livy Alex et al. (2012), dbSNP
DB-ID PCSK9_000002
dbSNP ID rs28385711
Frequency 1/4
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 10:37:03 +08:00 (CST)
Date last edited 2021-08-23 14:28:49 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
PCSK9 NM_174936.3 +?/. 5i c.799+1095C>G - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000230 DNA SEQ-NG-I PCSK9 4 Nuur Athirah Binti Mohd Daud