Variant (rsID / SNP)

rs1800973

rs1800973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYZ. Location: chromosome 12, position 69,744,014. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LYZBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:69744014
Cytoband: 12q15
HGVS: NM_000239.3(LYZ):c.263C>A (p.Thr88Asn)
Allele change: Missense_T88N

Associated conditions / phenotypes

Familial visceral amyloidosis, Ostertag type

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.