Variant (rsID / SNP)

rs142751309

rs142751309 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,519,711. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

USH1CBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:17519711
Cytoband: 11p15.1
HGVS: NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg)
Allele change: Missense_G511R

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.