Variant (rsID / SNP)

rs61744404

rs61744404 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRND, PRSS56. Location: chromosome 2, position 233,390,199. Clinical significance in the table: Benign.

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Reference-table entries

CHRNDBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:233390199
Cytoband: 2q37.1
HGVS: NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala)
Allele change: Missense_P599A

Associated conditions / phenotypes

Isolated microphthalmia 6|Lethal multiple pterygium syndrome

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.