Variant (rsID / SNP)

rs267607077

rs267607077 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SNRNP200. Location: chromosome 2, position 96,953,706. Clinical significance in the table: Pathogenic.

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Reference-table entries

SNRNP200Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:96953706
Cytoband: 2q11.2
HGVS: NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)
Allele change: Missense_S1087L

Associated conditions / phenotypes

Retinitis pigmentosa 33|Retinitis pigmentosa|Retinal dystrophy

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.