Variant #0000002724 (NC_000001.11:g.17194G>C, PINK1(NM_032409.3):c.1048G>C)

Individual ID 00000617
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.17194G>C
Published as -
Reference Shen Yang Lim et al.(2021): https://www.neurology-asia.org/articles/neuroasia-2021-26(1)-161.pdf
DB-ID PINK1_000001
dbSNP ID rs764648391
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
PINK1 NM_032409.3 ?/. - c.1048G>C Val350Leu r.(?) p.(Val350Leu) Uncertain Significance



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000683 DNA MLPA;SEQ-NG PINK1 1 Nur Aisyah Athirah