Variant (rsID / SNP)

rs121908053

rs121908053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LCAT. Location: chromosome 16, position 67,974,018. Clinical significance in the table: Pathogenic.

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Reference-table entries

LCATPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:67974018
Cytoband: 16q22.1
HGVS: NM_000229.2(LCAT):c.1112C>T (p.Thr371Met)
Allele change: Missense_T371M

Associated conditions / phenotypes

Fish-eye 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.