Variant (rsID / SNP)

rs377480477

rs377480477 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STRC. Location: chromosome 15, position 43,895,583. Clinical significance in the table: Pathogenic.

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Reference-table entries

STRCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:43895583
Cytoband: 15q15.3
HGVS: NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)
Allele change: Nonsense_R1468X

Associated conditions / phenotypes

Rare genetic deafness

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.