Variant (rsID / SNP)

rs79714279

rs79714279 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO5B. Location: chromosome 18, position 47,511,148. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYO5BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:47511148
Cytoband: 18q21.1
HGVS: NM_001080467.3(MYO5B):c.886A>G (p.Ile296Val)
Allele change: Missense_I296V

Associated conditions / phenotypes

Congenital microvillous atrophy

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.