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Variant (rsID / SNP)

rs149871062

PNPLA6

rs149871062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA6. Location: chromosome 19, position 7,625,995. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PNPLA6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:7625995
Cytoband
19p13.2
HGVS
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=)
Allele change
Synonymous_D1266D

Associated conditions / phenotypes

Hereditary spastic paraplegia 39

Public references

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