Variant (rsID / SNP)

rs121965082

rs121965082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,877,208. 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: 11:76877208
Cytoband: 11q13.5
HGVS: NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)
Allele change: Missense_M599I

Associated conditions / phenotypes

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

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.