Variant (rsID / SNP)

rs112133109

rs112133109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA6. Location: chromosome 19, position 7,623,941. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PNPLA6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:7623941
Cytoband: 19p13.2
HGVS: NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=)
Allele change: Synonymous_Q1163Q

Associated conditions / phenotypes

Hereditary spastic paraplegia 39|Hereditary spastic paraplegia

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.