Variant (rsID / SNP)

rs142730611

rs142730611 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,548,802. Clinical significance in the table: Uncertain significance.

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Reference-table entries

USH1CUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:17548802
Cytoband: 11p15.1
HGVS: NM_153676.4(USH1C):c.464G>C (p.Arg155Pro)
Allele change: Missense_R155P

Associated conditions / phenotypes

Usher syndrome type 1C

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.