Variant (rsID / SNP)

rs146358003

rs146358003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROM1. Location: chromosome 11, position 62,381,076. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ROM1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:62381076
Cytoband: 11q12.3
HGVS: NM_000327.4(ROM1):c.323C>T (p.Thr108Met)
Allele change: Missense_T108M

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.