Variant (rsID / SNP)

rs34165480

rs34165480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH3. Location: chromosome 17, position 10,535,839. 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: 17:10535839
Cytoband: 17p13.1
HGVS: NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)
Allele change: Missense_A1637V

Associated conditions / phenotypes

Freeman-Sheldon syndrome|Distal arthrogryposis type 2B1

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.