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Variant (rsID / SNP)

rs149103381

MYO18B

rs149103381 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO18B. Location: chromosome 22, position 26,423,285. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYO18BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:26423285
Cytoband
22q12.1
HGVS
NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp)
Allele change
Missense_R2449W

Associated conditions / phenotypes

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.