Variant (rsID / SNP)

rs142729495

rs142729495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SNRNP200. Location: chromosome 2, position 96,963,419. 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: 2:96963419
Cytoband: 2q11.2
HGVS: NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val)
Allele change: Missense_M387V

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.