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Variant (rsID / SNP)

rs147304568

MYH3

rs147304568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH3. Location: chromosome 17, position 10,533,050. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:10533050
Cytoband
17p13.1
HGVS
NM_002470.4(MYH3):c.5660A>G (p.Asp1887Gly)
Allele change
Missense_D1887G

Associated conditions / phenotypes

Distal arthrogryposis type 2B1|Freeman-Sheldon syndrome

Public references

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