MUC17 A2096T - 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:

MUC17 A2096T

(MUC17 Ala2096Thr)


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

  • A @ chr7:100680983: 17.3% (1863/10758) in EVS
  • A @ chr7:100467702: 21.1% (27/128) in GET-Evidence
  • Frequency shown in summary reports: 17.3% (1863/10758)

Publications
 

Genomes
 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr7:100680983

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr7:100680983

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr7:100680983

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr7:100680983

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr7:100680983

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr7:100680983

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr7:100680983

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr7:100680983

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr7:100680983

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr7:100680983

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr7:100467703

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr7:100467703

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr7:100467703

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr7:100467703

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr7:100467703

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr7:100467703

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr7:100467703

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr7:100467703

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr7:100467703

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr7:100467703

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr7:100467703

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr7:100467703

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr7:100467703

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr7:100467703

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr7:100467703

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr7:100467703

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr7:100467703

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr7:100467703

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr7:100467703

 

Other external references
 

    dbSNP
  • rs28593004
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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