MYH6 A1130T - GET-Evidence

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

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MYH6 A1130T

(MYH6 Ala1130Thr)

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



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

  • rs28730771
  • GeneTests records for the MYH6 gene
    Familial Hypertrophic Cardiomyopathy
    MYH6-Related Familial Hypertrophic Cardiomyopathy
    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 ...
  • {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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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