Variant (rsID / SNP)

rs201866631

rs201866631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1G. Location: chromosome 17, position 72,916,420. Clinical significance in the table: Pathogenic.

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Reference-table entries

USH1GPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:72916420
Cytoband: 17q25.1
HGVS: NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)
Allele change: Nonsense_E171X

Associated conditions / phenotypes

Deafness|Usher syndrome type 1G|Hearing loss, autosomal recessive

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.