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rs8069834

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs8069834(A;G)
Make rs8069834(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position10394341
GeneMYH8
is asnp
is mentioned by
dbSNPrs8069834
ebirs8069834
HLIrs8069834
Exacrs8069834
Varsomers8069834
Maprs8069834
PheGenIrs8069834
hapmaprs8069834
1000 genomesrs8069834
hgdprs8069834
ensemblrs8069834
gopubmedrs8069834
geneviewrs8069834
scholarrs8069834
googlers8069834
pharmgkbrs8069834
gwascentralrs8069834
openSNPrs8069834
23andMers8069834
23andMe allrs8069834
SNP Nexus

SNPshotrs8069834
SNPdbers8069834
MSV3drs8069834
GWAS Ctlgrs8069834
GMAF0.4959
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene MYH8
allele G
frequency 0.35
sift AFFECT FUNCTION
HuRef 1103645278898
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.



GET Evidence
MYH8-W1692R
aa_change Trp1692Arg
aa_change_short W1692R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.632391
summary



ClinVar
Risk rs8069834(G;G)
Alt rs8069834(G;G)
Reference rs8069834(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MYHAS MYH8
CLNDBN not specified
Reversed 0
HGVS NC_000017.10:g.10297658A>G
CLNSRC ClinVar
CLNACC RCV000117692.1,