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Curation:

Currentness:

(See the latest version)

IGHMBP2 R694W

(IGHMBP2 Arg694Trp)

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Variant evidence
Computational	1	PolyPhen2: Probably damaging 0.940 SIFT: Affect protein function 0.02 GVGD: Class C0

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 @ chr11:68704028: 22.2% (2383/10750) in EVS
T @ chr11:68460603: 20.2% (25/124) in GET-Evidence
Frequency shown in summary reports: 22.2% (2383/10750)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs2236654
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the IGHMBP2 gene
Spinal Muscular Atrophy with Respiratory Distress 1
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IGHMBP2

Web search results (8 hits -- see all)

Type II- 95%
... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... VAR_027401 PKC (0.563) 15338034 MUT P22033 R694W 691 VAR_004430 PKC (0.594) MMA, mut- and mut0 7912889 ...
nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
PromVolkendelektronische Fassung
IGHMBP2 Gens bei Patienten mit plötzlichem Säuglingstod (SIDS) und Säuglingen mit ... IGHMBP2 Gen homozygote oder compound heterozygote Missense , Nonsense ...
diss.fu-berlin.de/diss/servlets/MCRFileNodeServlet/...

Other in silico analyses

NBLOSUM100 score = 7
GET-Evidence autoscore = 2

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C07 from PGP sample 74521372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D03 from PGP sample 27486199 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_A04 from PGP sample 13272228 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B07 from PGP sample 61499538 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 GS000006909 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Jun 23 2011 Genome Importing Robot removed [NA19129] 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 [NA19240] view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Jun 15 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS21767-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19701-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19239-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19129-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18558-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_C01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added [NA19129] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added variant view

IGHMBP2 R694W - GET-Evidence