MFSD6L P214T - 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:

(See the latest version)

MFSD6L P214T

(MFSD6L Pro214Thr)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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 @ chr17:8701799: 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
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr17:8701799

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr17:8701799

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr17:8642524

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr17:8642524

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr17:8642524

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr17:8642524

 

Added in this revision:

GS18555 - var-GS18555-1100-36-ASM
het T @ chr17:8642524

 

NA07022

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19240

 

snp-1

 

snp-27

 

snp-30

 

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
 

Gene search

"GENE" or "GENE A123C":

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