Variant (rsID / SNP)

rs202205346

rs202205346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO5B. Location: chromosome 18, position 47,566,548. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYO5BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:47566548
Cytoband: 18q21.1
HGVS: NM_001080467.3(MYO5B):c.275G>A (p.Arg92His)
Allele change: Missense_R92H

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.