Variant (rsID / SNP)

rs4129843

rs4129843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,987,222. Clinical significance in the table: Benign.

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Reference-table entries

USH2ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:215987222
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp)
Allele change: Missense_N3199D

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.