Variant (rsID / SNP)
rs78626055
rs78626055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO5B. Location: chromosome 18, position 47,566,647. Clinical significance in the table: Benign.
Reference-table entries
MYO5BBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:47566647
- Cytoband
- 18q21.1
- HGVS
- NM_001080467.3(MYO5B):c.176T>C (p.Leu59Pro)
- Allele change
- Missense_L59P
Associated conditions / phenotypes
Congenital microvillous atrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.