Variant #0000001096 (NC_000001.11:g.55064198C>T, NM_174936.3:c.*614C>T (PCSK9))

Individual ID 00000215
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.55064198C>T
Published as -
Reference Livy Alex et al. (2012), dbSNP, ClinVar
DB-ID PCSK9_000004
dbSNP ID rs17111557
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 10:41:41 +08:00 (CST)
Date last edited 2021-08-23 14:33:09 +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.*614C>T - r.(=) p.(=) - 297735



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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