Variant (rsID / SNP)

rs121913623

rs121913623 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH3. Location: chromosome 17, position 10,551,909. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:10551909
Cytoband: 17p13.1
HGVS: NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)
Allele change: Missense_A234T

Associated conditions / phenotypes

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

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.