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Variant (rsID / SNP)

rs41298131

MYO7A

rs41298131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,867,047. 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
11:76867047
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
Allele change
Missense_I127T

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 2|Autosomal dominant nonsyndromic hearing loss 11|Usher syndrome type 1|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 2

Public references

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