Variant Results

or

Results for "LAMB1"

Variant Events: 17

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

LAMB1

SSC09614

chr7:
107566657-107566657

C

T

exonic

De novo

nonsynonymous SNV

NM_002291

c.G5035A

p.V1679M

14.78

-

Lim2017 E

LAMB1

13991.p1

chr7:
107566657-107566657

C

T

exonic

De novo

nonsynonymous SNV

NM_002291

c.G5035A

p.V1679M

14.78

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Wilfert2021 G

LAMB1

AU3858302

chr7:
107605058-107605058

C

G

exonic

De novo

nonsynonymous SNV

NM_002291

c.G1637C

p.G546A

21.3

-

Yuen2017 G

LAMB1

12657.p1

chr7:
107642100-107642100

G

T

exonic

De novo

nonsynonymous SNV

NM_002291

c.C116A

p.T39K

34.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E

LAMB1

JASD_Fam0222

chr7:
107569954-107569954

G

A

exonic

De novo

stopgain

NM_002291

c.C4648T

p.R1550X

45.0

-

Takata2018 E

LAMB1

ASC_CA_95_A

chr7:
107564433-107564433

A

G

exonic

De novo

nonsynonymous SNV

NM_002291

c.T5324C

p.I1775T

24.9

-

Satterstrom2020 E

LAMB1

09C81774

chr7:
107564710-107564710

A

G

exonic

De novo

nonsynonymous SNV

NM_002291

c.T5189C

p.L1730S

25.3

1.651E-5

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

LAMB1

1-0377-003

chr7:
107654164-107654164

A

C

intergenic

De novo

-

Yuen2017 G

LAMB1

13177.p1

chr7:
107605145-107605145

A

G

intronic

De novo

-

3.0E-4

Satterstrom2020 E

LAMB1

1-0486-003

chr7:
107611861-107611861

C

T

intronic

De novo

-

Yuen2017 G

LAMB1

1-0757-003

chr7:
107578152-107578153

GA

GAGATCA

intronic

De novo

-

Yuen2017 G

LAMB1

iHART2195

chr7:
107591674-107591674

G

A

exonic

Maternal

stopgain

NM_002291

c.C3388T

p.R1130X

44.0

-

Ruzzo2019 G

LAMB1

1-0638-003

chr7:
107600712-107600712

A

C

intronic

De novo

-

Yuen2017 G

LAMB1

iHART1297

chr7:
107564835-107564835

C

CTA

splicing

Paternal

splicing

-

1.864E-5

Ruzzo2019 G

LAMB1

2-1333-003

chr7:
107633723-107633723

C

T

intronic

De novo

-

Yuen2017 G

LAMB1

2-1702-004

chr7:
107656583-107656583

G

A

intergenic

De novo

-

Yuen2017 G

LAMB1

7-0249-003

chr7:
107614139-107614139

G

A

intronic

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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