Variant (rsID / SNP)

rs142998820

rs142998820 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPSD1. Location: chromosome 16, position 1,308,333. Clinical significance in the table: Benign.

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Reference-table entries

TPSD1Benign

Clinical significance (as recorded): Benign
Variant type: missense_variant&splice_region_variant
Chromosome / position: 16:1308333
HGVS: NM_012217.3,c.685G>A,p.Gly229Ser
Allele change: Missense_G229S

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.