Variant (rsID / SNP)

rs201323717

rs201323717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO3A. Location: chromosome 10, position 26,359,043. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYO3AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:26359043
Cytoband: 10p12.1
HGVS: NM_017433.5(MYO3A):c.1174T>C (p.Ser392Pro)
Allele change: Missense_S392P

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.