Variant (rsID / SNP)

rs140080678

rs140080678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,258,159. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

USH2AConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:216258159
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
Allele change: Missense_N1683S

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.