MAPT R370W - 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.

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Curation:
Currentness:

(See the latest version)

MAPT R370W

(MAPT Arg370Trp)


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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 @ chr17:44061278: 15.6% (1539/9894) in EVS
  • T @ chr17:41417114: 10.9% (14/128) in GET-Evidence
  • Frequency shown in summary reports: 15.6% (1539/9894)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr17:44061278

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr17:44061278

 

Added in this revision:

GS06994 - var-GS06994-1100-36-ASM
het T @ chr17:41417115

 

NA07022

 

NA12156

 

NA12878

 

Other external references
 

    dbSNP
  • rs17651549
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.996 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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