Variant (rsID / SNP)

rs2230517

rs2230517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MERTK. Location: chromosome 2, position 112,786,049. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MERTKBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:112786049
Cytoband: 2q13
HGVS: NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)
Allele change: Missense_V870I

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 38

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.