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

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Curation:

Currentness:

(See the latest version)

HSPG2 H3256Y

(HSPG2 His3256Tyr)

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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 @ chr1:22165987: 12.5% (1346/10758) in EVS
A @ chr1:22038573: 14.8% (19/128) in GET-Evidence
Frequency shown in summary reports: 12.5% (1346/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs2291827
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the HSPG2 gene
Dyssegmental Dysplasia, Silverman-Handmaker Type
Schwartz-Jampel Syndrome, Type 1
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPG2

Web search results (1 hit -- see all)

Other in silico analyses

NBLOSUM100 score = –1
GET-Evidence autoscore = 1

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B05 from PGP sample 86486261 view
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 GS01175-DNA_D01 from PGP sample 31286272 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 GS01173-DNA_G02 from PGP sample 67180598 view
Nov 29 2012 Genome Importing Robot added hu34D5B9 exome 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 [NA18956] view
Jun 23 2011 Genome Importing Robot removed [NA12156] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed D#kgao 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-GS19700-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19670-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19669-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18956-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18942-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS12004-1100-36-ASM view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
May 8 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Feb 27 2010 Genome Importing Robot added D#kgao view
Feb 26 2010 Genome Importing Robot added [NA12156] view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added [NA18956] 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

HSPG2 H3256Y - GET-Evidence