Variant (rsID / SNP)

rs80338904

rs80338904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,844,427. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

USH2ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:215844427
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)
Allele change: Missense_R4674G

Associated conditions / phenotypes

Retinitis pigmentosa 39|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.