Variant (rsID / SNP)

rs188588330

rs188588330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH3. Location: chromosome 17, position 10,542,799. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYH3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:10542799
Cytoband: 17p13.1
HGVS: NM_002470.4(MYH3):c.2926-8C>T
Allele change: Silent

Associated conditions / phenotypes

Distal arthrogryposis type 2B1|Freeman-Sheldon syndrome

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.