Variant (rsID / SNP)

rs115590586

rs115590586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRSS56. Location: chromosome 2, position 233,386,531. Clinical significance in the table: Benign.

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Reference-table entries

PRSS56Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:233386531
Cytoband: 2q37.1
HGVS: NM_001195129.2(PRSS56):c.211G>C (p.Gly71Arg)
Allele change: Missense_G71R

Associated conditions / phenotypes

Isolated microphthalmia 6

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.