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rs35952774

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35952774(C;T)
Make rs35952774(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position10404338
GeneMYH8
is asnp
is mentioned by
dbSNPrs35952774
ebirs35952774
HLIrs35952774
Exacrs35952774
Varsomers35952774
Maprs35952774
PheGenIrs35952774
hapmaprs35952774
1000 genomesrs35952774
hgdprs35952774
ensemblrs35952774
gopubmedrs35952774
geneviewrs35952774
scholarrs35952774
googlers35952774
pharmgkbrs35952774
gwascentralrs35952774
openSNPrs35952774
23andMers35952774
23andMe allrs35952774
SNP Nexus

SNPshotrs35952774
SNPdbers35952774
MSV3drs35952774
GWAS Ctlgrs35952774
Max Magnitude0
Venter snp
Source plos
Gene MYH8
allele T
frequency
sift TOLERATED
HuRef 1103645278918
Disease Association Defects in MYH8 are a cause of trismus- pseudocamptodactyly syndrome (MIM:158300); also called Hecht-Beals or Dutch-Kentucky syndrome. The trismus-pseudocamptodactyly syndrome is a hereditary distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Such hand and jaw contractures are caused by shortened flexor muscle-tendon units. Similar lower-limb contractures also produce foot deformity. The trismus-pseudocamptodactyly syndrome is a morbid autosomal dominant trait with variable expressivity but high penetrance. In these patients, trismus complicates dental care, feeding during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent occupational and social disability. Many patients require surgical correction of contractures.