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Variant (rsID / SNP)

rs145080512

MYH3

rs145080512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH3. Location: chromosome 17, position 10,541,610. 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
17:10541610
Cytoband
17p13.1
HGVS
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met)
Allele change
Missense_T1160M

Associated conditions / phenotypes

Distal arthrogryposis type 2B1|Freeman-Sheldon syndrome|Arthrogryposis, distal, type 2B3

Public references

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