Variant (rsID / SNP)

rs35188020

rs35188020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,538,966. 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: 11:17538966
Cytoband: 11p15.1
HGVS: NM_005709.4(USH1C):c.1266G>A (p.Thr422=)
Allele change: Synonymous_T403T

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.