Variant (rsID / SNP)

rs121909116

rs121909116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ECM1. Location: chromosome 1, position 150,483,465. Clinical significance in the table: Pathogenic.

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Reference-table entries

ECM1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:150483465
Cytoband: 1q21.2
HGVS: NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)
Allele change: Missense_F167I

Associated conditions / phenotypes

Lipid proteinosis

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.