Variant (rsID / SNP)

rs142284609

rs142284609 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MERTK. Location: chromosome 2, position 112,722,792. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MERTKUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:112722792
Cytoband: 2q13
HGVS: NM_006343.3(MERTK):c.782G>C (p.Ser261Thr)
Allele change: Missense_S261N

Associated conditions / phenotypes

Retinitis pigmentosa

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.