Variant (rsID / SNP)

rs35370634

rs35370634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMFBP1. Location: chromosome 16, position 72,184,566. The table records no clinical significance for this variant.

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Reference-table entries

PMFBP1Not classified

Variant type: missense_variant
Chromosome / position: 16:72184566
HGVS: NM_031293.3,c.577G>A,p.Glu193Lys
Allele change: Missense_E48K

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.