MYH6 V1101A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

MYH6 V1101A

(MYH6 Val1101Ala)


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

  • G @ chr14:23861811: 46.1% (4958/10758) in EVS
  • G @ chr14:22931650: 45.2% (57/126) in GET-Evidence
  • Frequency shown in summary reports: 46.1% (4958/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr14:23861811

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr14:23861811

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr14:23861811

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr14:23861811

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr14:23861811

 

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr14:23861811

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr14:23861811

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr14:23861811

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr14:23861811

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr14:23861811

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr14:23861811

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr14:23861811

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr14:23861811

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr14:23861811

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom G @ chr14:23861811

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr14:23861811

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr14:23861811

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr14:23861811

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr14:23861811

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr14:23861811

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr14:23861811

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr14:23861811

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr14:22931651

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chr14:22931651

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr14:22931651

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr14:22931651

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr14:22931651

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr14:22931651

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr14:22931651

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr14:22931651

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr14:22931651

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr14:22931651

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr14:22931651

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr14:22931651

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr14:22931651

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr14:22931651

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr14:22931651

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr14:22931651

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr14:22931651

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr14:22931651

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr14:22931651

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr14:22931651

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr14:22931651

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr14:22931651

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr14:22931651

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr14:22931651

 

GS20502 - var-GS20502-1100-36-ASM
hom G @ chr14:22931651

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr14:22931651

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr14:22931651

 

Other external references
 

    dbSNP
  • rs365990
    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 (2 hits -- see all)
  • SNPs Identified in MYH6
    V1101A. T/C. WIPGA_03_225. chr14:21852998 "Intronic, 5' Splice Site" view. G/A. WIPGA_03_226 ... Candidate Gene List > MYH6 Main Page > SNPs Identified in MYH6 ...
    cardiogenomics.med.harvard.edu/.../MYH6_validated_SNPs.html
  • SNPs Identified in MYH6
    V1101A. T/C. WIPGA_03_227. chr14:21856013. Intronic. view. A/C. WIPGA_03_230. chr14:21856841 ... Candidate Gene List > MYH6 Main Page > SNPs Identified in MYH6 ...
    cardiogenomics.med.harvard.edu/.../MYH6_validated_SNPs.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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