Variant (rsID / SNP)

rs121965085

rs121965085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,885,862. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYO7APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:76885862
Cytoband: 11q13.5
HGVS: NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
Allele change: Nonsense_R666X

Associated conditions / phenotypes

Usher syndrome type 1B|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1

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.