MYH6 A1130T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

MYH6 A1130T

(MYH6 Ala1130Thr)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr14:23859610: 8.3% (886/10662) in EVS
  • T @ chr14:22929449: 4.8% (6/126) in GET-Evidence
  • Frequency shown in summary reports: 8.3% (886/10662)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr14:23859610

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom T @ chr14:23859610

 

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr14:22929450

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr14:22929450

 

GS20502 - var-GS20502-1100-36-ASM
hom T @ chr14:22929450

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr14:22929450

 

Other external references
 

    dbSNP
  • rs28730771
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the MYH6 gene
    Familial Hypertrophic Cardiomyopathy
    MYH6-Related Familial Hypertrophic Cardiomyopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH6
    Web search results (3 hits -- see all)
  • SNPs Identified in MYH6
    A1130T. G/A. WIPGA_03_224. 3370. chr14:21851939. Missense. view. V1101A. T/C ... Discovery and Genotyping > Candidate Gene List > MYH6 Main Page > SNPs Identified in MYH6 ...
    cardiogenomics.med.harvard.edu/.../MYH6_validated_SNPs.html
  • {alpha}-Myosin Heavy Chain: A Sarcomeric Gene Associated With ...
    All MYH6 mutations were distributed in highly conserved residues, were predicted ... role of MYH6 mutations in mammals.7 In humans, an MYH6 mutation has ...
    circ.ahajournals.org/cgi/content/full/112/1/54
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Effect Reference(s) for variant Reference(s) for phosphorylation site ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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