Variant (rsID / SNP)

rs149616320

rs149616320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SNRNP200. Location: chromosome 2, position 96,955,677. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SNRNP200Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:96955677
Cytoband: 2q11.2
HGVS: NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala)
Allele change: Missense_T934A

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 33

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.