Variant (rsID / SNP)

rs5923

rs5923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LCAT. Location: chromosome 16, position 67,973,953. Clinical significance in the table: Benign.

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Reference-table entries

LCATBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:67973953
Cytoband: 16q22.1
HGVS: NM_000229.2(LCAT):c.1177C>T (p.Leu393=)
Allele change: Synonymous_L393L

Associated conditions / phenotypes

LCAT deficiency|Fish-eye disease|Norum disease

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.