Variant (rsID / SNP)

rs147481183

rs147481183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGAP3. Location: chromosome 17, position 37,829,392. Clinical significance in the table: Likely benign.

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Reference-table entries

PGAP3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:37829392
Cytoband: 17q12
HGVS: NM_033419.5(PGAP3):c.811C>A (p.Leu271Met)
Allele change: Silent

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.