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rs34693726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34693726(C;T)
Make rs34693726(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position10409155
GeneMYH8
is asnp
is mentioned by
dbSNPrs34693726
ebirs34693726
HLIrs34693726
Exacrs34693726
Varsomers34693726
Maprs34693726
PheGenIrs34693726
hapmaprs34693726
1000 genomesrs34693726
hgdprs34693726
ensemblrs34693726
gopubmedrs34693726
geneviewrs34693726
scholarrs34693726
googlers34693726
pharmgkbrs34693726
gwascentralrs34693726
openSNPrs34693726
23andMers34693726
23andMe allrs34693726
SNP Nexus

SNPshotrs34693726
SNPdbers34693726
MSV3drs34693726
GWAS Ctlgrs34693726
GMAF0.05051
Max Magnitude0
Venter snp
Source plos
Gene MYH8
allele A
frequency
sift TOLERATED
HuRef 1103645278924
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.



? (C;C) (C;T)


GET Evidence
MYH8-A636V
aa_change Ala636Val
aa_change_short A636V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0561443
summary



ClinVar
Risk rs34693726(T;T)
Alt rs34693726(T;T)
Reference rs34693726(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MYHAS MYH8
CLNDBN not specified
Reversed 1
HGVS NC_000017.10:g.10312472G>A
CLNSRC ClinVar
CLNACC RCV000117685.1,