Variant Results

or

Results for "ITGB6"

Variant Events: 12

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

ITGB6

A7

chr2:
160982927-160982927

G

A

exonic

De novo

stopgain

NM_001282354
NM_001282388
NM_001282390
NM_000888
NM_001282389
NM_001282353

c.C1561T
c.C1720T
c.C1432T
c.C1846T
c.C1627T
c.C1846T

p.R521X
p.R574X
p.R478X
p.R616X
p.R543X
p.R616X

40.0

1.648E-5

Wu2018 G

ITGB6

1-0380-003

chr2:
161012174-161012174

T

C

intronic

De novo

-

Yuen2017 G

ITGB6

152-HSC0079

chr2:
160964212-160964212

C

T

exonic

Inherited

nonsynonymous SNV

NM_001282354
NM_001282355
NM_001282388
NM_001282390
NM_000888
NM_001282389
NM_001282353

c.G1961A
c.G1925A
c.G2120A
c.G1832A
c.G2246A
c.G2027A
c.G2246A

p.R654Q
p.R642Q
p.R707Q
p.R611Q
p.R749Q
p.R676Q
p.R749Q

25.5

9.065E-5

Patowary2019 E

ITGB6

A3

chr2:
161025722-161025722

C

G

splicing

De novo

splicing

27.0

-

Wu2018 G

ITGB6

AU3862305

chr2:
161100967-161100967

A

T

intergenic

De novo

-

Yuen2017 G

ITGB6

SP0000087

chr2:
160994350-160994350

C

T

exonic

De novo

nonsynonymous SNV

NM_001282354
NM_001282388
NM_001282390
NM_000888
NM_001282355
NM_001282389
NM_001282353

c.G970A
c.G1129A
c.G841A
c.G1255A
c.G1255A
c.G1036A
c.G1255A

p.V324M
p.V377M
p.V281M
p.V419M
p.V419M
p.V346M
p.V419M

14.27

2.5E-5

Feliciano2019 E

ITGB6

7902-01-001

chr2:
160994090-160994090

G

A

exonic

De novo

synonymous SNV

NM_001282354
NM_001282388
NM_001282390
NM_000888
NM_001282355
NM_001282389
NM_001282353

c.C1230T
c.C1389T
c.C1101T
c.C1515T
c.C1515T
c.C1296T
c.C1515T

p.A410A
p.A463A
p.A367A
p.A505A
p.A505A
p.A432A
p.A505A

-

Satterstrom2020 E

ITGB6

AU059903

chr2:
161110980-161110987

CAAGGAAG

CAAG

intergenic

De novo

-

Yuen2017 G

ITGB6

2-1440-003

chr2:
161078207-161078207

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ITGB6

AU3724302

chr2:
161017156-161017156

G

T

intronic

De novo

-

Yuen2017 G

ITGB6

1-0125-003

chr2:
161009137-161009137

G

C

intronic

De novo

-

Yuen2017 G

ITGB6

5-0018-003

chr2:
161062572-161062572

G

C

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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