Variant (rsID / SNP)

rs2071499

rs2071499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCA2A. Location: chromosome 1, position 42,630,364. The table records no clinical significance for this variant.

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Reference-table entries

GUCA2ANot classified

Variant type: missense_variant
Chromosome / position: 1:42630364
HGVS: NM_033553.3,c.20C>T,p.Ser7Phe
Allele change: Missense_S7F

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.