Variant (rsID / SNP)

rs138831590

rs138831590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RHO. Location: chromosome 3, position 129,252,473. Clinical significance in the table: Likely benign.

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Reference-table entries

RHOLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:129252473
Cytoband: 3q22.1
HGVS: NM_000539.3(RHO):c.959C>A (p.Thr320Asn)
Allele change: Missense_T320N

Associated conditions / phenotypes

Congenital stationary night blindness autosomal dominant 1|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.