Variant (rsID / SNP)

rs143549737

rs143549737 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDSS2. Location: chromosome 6, position 107,780,215. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PDSS2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:107780215
Cytoband: 6q21
HGVS: NM_020381.4(PDSS2):c.275A>C (p.His92Pro)
Allele change: Missense_H92P

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.