HPS5 L417M - 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)

HPS5 L417M

(HPS5 Leu417Met)


You are viewing an old version of this page that was saved on June 22, 2011 at 11:52pm 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 @ chr11:18319180: 13.1% (1408/10758) in EVS
  • T @ chr11:18275755: 19.5% (25/128) in GET-Evidence
  • Frequency shown in summary reports: 13.1% (1408/10758)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr11:18319180

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr11:18319180

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr11:18319180

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr11:18319180

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr11:18275756

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr11:18275756

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr11:18275756

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr11:18275756

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr11:18275756

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr11:18275756

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr11:18275756

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr11:18275756

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr11:18275756

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr11:18275756

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr11:18275756

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr11:18275756

 

GS19649 - var-GS19649-1100-36-ASM
hom T @ chr11:18275756

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr11:18275756

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr11:18275756

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr11:18275756

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr11:18275756

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr11:18275756

 

NA19129

 

NA19240

 

Deleted in this revision:

NA19240

 

snp-6

 

Other external references
 

    dbSNP
  • rs7128017
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.956 (probably damaging)
    Web search results (1 hit -- see all)
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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