Variant #0000002798 (NC_000001.11:g.17186T>C, PINK1(NM_032409.3):c.1040T>C)

Individual ID 00000641
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.17186T>C
Published as -
Reference Ai Huey Tan et al.(2020)
DB-ID PINK1_000002 See all 2 reported entries
dbSNP ID rs28940285
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 +/. 5 c.1040T>C - r.(?) p.(Leu347Pro) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000708 DNA SEQ-NG;TaqMan PINK1 1 Nur Aisyah Athirah