Variant (rsID / SNP)

rs115931035

rs115931035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,538,971. Clinical significance in the table: Benign.

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Reference-table entries

USH1CBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:17538971
Cytoband: 11p15.1
HGVS: NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser)
Allele change: Missense_G402S

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.