Variant (rsID / SNP)

rs377670513

rs377670513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,922,954. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MYO7ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:76922954
Cytoband: 11q13.5
HGVS: NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
Allele change: Missense_T2109I

Associated conditions / phenotypes

Rare genetic deafness|Usher syndrome

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.