Variant (rsID / SNP)

rs1942418

rs1942418 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO5B. Location: chromosome 18, position 47,383,243. Clinical significance in the table: Benign.

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Reference-table entries

MYO5BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:47383243
Cytoband: 18q21.1
HGVS: NM_001080467.3(MYO5B):c.3962G>A (p.Gly1321Glu)
Allele change: Missense_G1321E

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.