Variant (rsID / SNP)

rs17854547

rs17854547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEC63. Location: chromosome 6, position 108,214,694. Clinical significance in the table: Benign.

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Reference-table entries

SEC63Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:108214694
Cytoband: 6q21
HGVS: NM_007214.5(SEC63):c.1666G>A (p.Val556Ile)
Allele change: Missense_V556I

Associated conditions / phenotypes

Polycystic liver disease 2

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.