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

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Curation:

Currentness:

(See the latest version)

MAPT Y441H

(MAPT Tyr441His)

See also: MAPT H441Y

You are viewing an old version of this page that was saved on November 29, 2012 at 6:07am by Genome Importing Robot.

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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.)

unknown

Allele frequency

C @ chr17:44067382: 17.8% (1916/10758) in EVS
Frequency shown in summary reports: 17.8% (1916/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs112757188
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
rs2258689
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the MAPT gene
Frontotemporal Dementia with Parkinsonism-17
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAPT

Other in silico analyses

NBLOSUM100 score = –1
GET-Evidence autoscore = 2

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B05 from PGP sample 86486261 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_H01 from PGP sample 94797469 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_G03 from PGP sample 92527586 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D01 from PGP sample 31286272 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Mar 5 2012 Genome Importing Robot added variant view

MAPT Y441H - GET-Evidence