Variant (rsID / SNP)

rs148658588

rs148658588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,868,740. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

POLGBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:89868740
Cytoband: 15q26.1
HGVS: NM_002693.3(POLG):c.1890C>T (p.Asn630=)
Allele change: Synonymous_N630N

Associated conditions / phenotypes

Progressive sclerosing poliodystrophy

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.