Variant (rsID / SNP)

rs139493398

rs139493398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDSS2. Location: chromosome 6, position 107,475,874. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PDSS2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:107475874
Cytoband: 6q21
HGVS: NM_020381.4(PDSS2):c.1149G>A (p.Glu383=)
Allele change: Synonymous_E383E

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.