Variant (rsID / SNP)

rs140447165

rs140447165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO1E. Location: chromosome 15, position 59,497,622. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYO1EConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:59497622
Cytoband: 15q22.2
HGVS: NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met)
Allele change: Missense_I531M

Associated conditions / phenotypes

Microscopic hematuria

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.