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

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Curation:

Currentness:

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SP110 A128V

(SP110 Ala128Val)

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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

A @ chr2:231077676: 7.1% (769/10758) in EVS
A @ chr2:230785919: 6.2% (8/128) in GET-Evidence
Frequency shown in summary reports: 7.1% (769/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs11556887
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the SP110 gene
Hepatic Veno-occlusive Disease with Immunodeficiency
Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 1A
Charcot-Marie-Tooth Neuropathy Type 1E
Hereditary Neuropathy with Liability to Pressure Palsies
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SP110

Web search results (0 hits -- see all)

Other in silico analyses

NBLOSUM100 score = 2
GET-Evidence autoscore = 2

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 GS01669-DNA_F02 from PGP sample 40767107 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 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 [NA12878] view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed [snp-3] 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-GS18526-1100-36-ASM view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
May 8 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added [snp-3] 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

SP110 A128V - GET-Evidence