Variant (rsID / SNP)

rs372347027

rs372347027 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,040,521. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

USH2APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:216040521
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.8682-9A>G
Allele change: Silent

Associated conditions / phenotypes

Retinitis pigmentosa 39|Usher syndrome|Retinal dystrophy|Retinitis pigmentosa|Usher syndrome type 2A

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.