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Variant (rsID / SNP)

rs2285477

MYH3

rs2285477 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH3. Location: chromosome 17, position 10,541,515. Clinical significance in the table: Benign.

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Reference-table entries

MYH3Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
17:10541515
Cytoband
17p13.1
HGVS
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr)
Allele change
Missense_A1192T

Associated conditions / phenotypes

Freeman-Sheldon syndrome|Distal arthrogryposis type 2B1|Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A|Arthrogryposis, distal, type 2B3|Contractures, pterygia, and variable skeletal fusions syndrome 1B

Public references

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