Variant (rsID / SNP)

rs141658242

rs141658242 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO1A. Location: chromosome 12, position 57,442,059. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYO1ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:57442059
Cytoband: 12q13.3
HGVS: NM_005379.4(MYO1A):c.49G>C (p.Glu17Gln)
Allele change: Missense_E17Q

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.