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Variant (rsID / SNP)

rs75157409

USH1C

rs75157409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,554,805. 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
11:17554805
Cytoband
11p15.1
HGVS
NM_153676.4(USH1C):c.101A>G (p.His34Arg)
Allele change
Missense_H34R

Associated conditions / phenotypes

Usher syndrome type 1C

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.