Variant Results

or

or

Results for "LAMB4"

Variant Events: 25

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

LAMB4

AU4235303

chr7:
107703512-107703512

G

A

intronic

De novo

-

-

Yuen2017 G

LAMB4

AU4033303

chr7:
107760290-107760290

T

C

intronic

De novo

-

-

Yuen2017 G

LAMB4

11118.p1

chr7:
107738816-107738818

GAC

G

intronic

De novo

-

Satterstrom2020 E

LAMB4

2-0003-003

chr7:
107738801-107738801

A

AGCC

intronic

De novo

-

-

Yuen2017 G

LAMB4

Li2017:17685

chr7:
107708470-107708470

C

T

exonic

Unknown

nonsynonymous SNV

NM_007356

c.G2437A

p.G813S

31.0

Li2017 T

LAMB4

7-0151-003

chr7:
107745517-107745517

G

C

intronic

De novo

-

-

Yuen2017 G

LAMB4

iHART3046

chr7:
107756563-107756564

AC

A

exonic

Maternal

frameshift deletion

NM_007356

c.77delG

p.G26fs

-

-

Ruzzo2019 G

LAMB4

AU033A

chr7:
107669504-107669504

C

G

exonic

De novo

nonsynonymous SNV

NM_007356

c.G5130C

p.K1710N

14.69

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

LAMB4

2-1359-004

chr7:
107738801-107738801

A

AGCC

intronic

De novo

-

-

Yuen2017 G

LAMB4

SP0061294

chr7:
107703343-107703343

A

G

exonic

De novo

nonsynonymous SNV

NM_007356

c.T3158C

p.L1053P

14.07

-

Fu2022 E

LAMB4

AC01-0061-01

chr7:
107732025-107732025

C

T

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

LAMB4

SP0038407

chr7:
107689868-107689868

A

C

exonic

De novo

stopgain

NM_007356

c.T4025G

p.L1342X

39.0

Fu2022 E

LAMB4

SP0137474

chr7:
107696194-107696194

C

G

exonic

De novo

nonsynonymous SNV

NM_007356

c.G3638C

p.C1213S

11.57

-

Fu2022 E

LAMB4

2-0503-003

chr7:
107665853-107665853

T

TC

intronic

De novo

-

-

Yuen2017 G

LAMB4

AU1894304

chr7:
107718926-107718926

G

C

intronic

De novo

-

-

Yuen2017 G

LAMB4

3-0246-000

chr7:
107715419-107715419

A

C

intronic

De novo

-

-

Yuen2016 G

LAMB4

Li2017:23974

chr7:
107706887-107706888

CA

C

exonic

Unknown

frameshift deletion

NM_007356

c.2604delT

p.F868fs

-

-

Li2017 T

LAMB4

2-1620-004

chr7:
107738799-107738799

C

CTTACGCTGG

intronic

De novo

-

-

Yuen2017 G

LAMB4

2-0309-004

chr7:
107738799-107738799

C

CTTACGCTGG

intronic

De novo

-

-

Yuen2017 G

LAMB4

2-0135-004

chr7:
107738799-107738799

C

CTTACGCTGG

intronic

De novo

-

-

Yuen2017 G

LAMB4

A28

chr7:
107708575-107708575

C

T

exonic

De novo

nonsynonymous SNV

NM_007356

c.G2332A

p.G778R

17.71

Wu2018 G

LAMB4

1-0991-003

chr7:
107674660-107674660

A

G

exonic

De novo

nonsynonymous SNV

NM_007356

c.T4811C

p.V1604A

10.49

-

Yuen2017 G

LAMB4

A4

chr7:
107692601-107692601

A

G

exonic

De novo

nonsynonymous SNV

NM_007356

c.T3857C

p.L1286P

13.22

-

Wu2018 G

LAMB4

A5

chr7:
107735736-107735736

A

C

exonic

De novo

nonsynonymous SNV

NM_007356

c.T1407G

p.D469E

16.6

Wu2018 G

LAMB4

A17

chr7:
107752318-107752318

A

G

exonic

De novo

nonsynonymous SNV

NM_007356

c.T266C

p.I89T

18.23

Wu2018 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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