Variant (rsID / SNP)

rs2797234

rs2797234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,848,587. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

USH2ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:215848587
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)
Allele change: Synonymous_T4222T

Associated conditions / phenotypes

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.