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Variant (rsID / SNP)

rs397516327

MYO7A

rs397516327 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,922,310. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYO7AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:76922310
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
Allele change
Synonymous_S2055S

Associated conditions / phenotypes

Usher syndrome type 1B

Public references

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