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

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Curation:

Currentness:

(See the latest version)

MFSD6L P214T

(MFSD6L Pro214Thr)

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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

T @ chr17:8701799: 19.9% (2145/10758) in EVS
T @ chr17:8642523: 21.9% (28/128) in GET-Evidence
Frequency shown in summary reports: 19.9% (2145/10758)

Publications

Genomes

Deleted in this revision:

Other external references

dbSNP

rs17854013
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

PolyPhen-2

Score: 0.251 (possibly damaging)

Other in silico analyses

NBLOSUM100 score = 4
GET-Evidence autoscore = 0

Edit history

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 GS01175-DNA_D05 from PGP sample 1205491 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_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_B07 from PGP sample 61499538 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Mar 5 2012 Genome Importing Robot added hu232307 build 36 substitution variants view
Jun 23 2011 Genome Importing Robot removed [NA18956] view
Jun 23 2011 Genome Importing Robot removed [NA18555] view
Jun 23 2011 Genome Importing Robot removed [NA18517] view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 23 2011 Genome Importing Robot removed [NA18507] view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed G/aq'o view
Jun 22 2011 Genome Importing Robot removed Desmond Tutu view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Mar 29 2011 Genome Importing Robot added var-GS21767-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS20509-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19703-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19701-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19238-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19025-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19020-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18956-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18942-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18517-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
May 8 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Feb 27 2010 Genome Importing Robot added Desmond Tutu view
Feb 27 2010 Genome Importing Robot added G/aq'o view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA18555] view
Dec 27 2009 Genome Importing Robot added [NA18517] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

MFSD6L P214T - GET-Evidence