Variant (rsID / SNP)

rs3738136

rs3738136 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PINK1. Location: chromosome 1, position 20,972,111. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PINK1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:20972111
Cytoband: 1p36.12
HGVS: NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr)
Allele change: Missense_A340T

Associated conditions / phenotypes

Autosomal recessive early-onset Parkinson disease 6

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.