Variant (rsID / SNP)

rs369452147

rs369452147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO1A. Location: chromosome 12, position 57,430,790. Clinical significance in the table: Likely benign.

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Reference-table entries

MYO1ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:57430790
Cytoband: 12q13.3
HGVS: NM_005379.4(MYO1A):c.2141G>A (p.Arg714His)
Allele change: Missense_R714H

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.