Variant (rsID / SNP)

rs138194008

rs138194008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH3. Location: chromosome 17, position 10,533,672. 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: 17:10533672
Cytoband: 17p13.1
HGVS: NM_002470.4(MYH3):c.5390G>A (p.Arg1797His)
Allele change: Missense_R1797H

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.