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Variant (rsID / SNP)

rs121908370

USH1C

rs121908370 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,554,815. Clinical significance in the table: Pathogenic.

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Reference-table entries

USH1CPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:17554815
Cytoband
11p15.1
HGVS
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
Allele change
Nonsense_R31X

Associated conditions / phenotypes

Usher syndrome type 1C|Usher syndrome type 1C|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 18A|Autosomal recessive nonsyndromic hearing loss 18A

Public references

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