SLC39A12 Q342R - 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:

SLC39A12 Q342R

(SLC39A12 Gln342Arg)


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

  • G @ chr10:18270341: 1.9% (207/10758) in EVS
  • G @ chr10:18310346: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (207/10758)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr10:18270341

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr10:18310347

 

Other external references
 

    dbSNP
  • rs72778328
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (3 hits -- see all)
  • Type III 99%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Kinase ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_99.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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