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:

SOX30 Q429K

(SOX30 Gln429Lys)

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 @ chr5:157073747: 2.1% (231/10758) in EVS
T @ chr5:157006324: 3.1% (4/128) in GET-Evidence
Frequency shown in summary reports: 2.1% (231/10758)

Publications

Genomes

Other external references

dbSNP

rs12188040
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

PolyPhen-2

Score: 0.98 (probably damaging)

Other in silico analyses

NBLOSUM100 score = –2
GET-Evidence autoscore = 2

Edit history

Jun 23 2011 Genome Importing Robot removed [NA12878] view
Mar 29 2011 Genome Importing Robot added var-GS19834-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added variant view

Gene search

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