Variant Results

or

Results for "LAMB3"

Variant Events: 13

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

LAMB3

12839.p1

chr1:
209806043-209806043

C

G

exonic

Mosaic Mat.

nonsynonymous SNV

NM_001017402
NM_000228
NM_001127641

c.G707C
c.G707C
c.G707C

p.S236T
p.S236T
p.S236T

17.53

8.249E-6

Dou2017 E

LAMB3

7-0068-003

chr1:
209825570-209825570

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LAMB3

2-1381-003

chr1:
209798932-209798932

C

A

intronic

De novo

-

Yuen2017 G

LAMB3

12605.p1

chr1:
209823359-209823359

A

C

exonic

De novo

nonsynonymous SNV

NM_001017402
NM_000228
NM_001127641

c.T133G
c.T133G
c.T133G

p.S45A
p.S45A
p.S45A

22.7

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

LAMB3

MSSNG00437-004

chr1:
209821147-209821147

A

G

intronic

De novo

-

Trost2022 G

LAMB3

MSSNG00390-003

chr1:
209790188-209790188

C

T

intronic

De novo

-

Trost2022 G

LAMB3

546-05-104376

chr1:
209800773-209800773

C

T

exonic

De novo

synonymous SNV

NM_001017402
NM_000228
NM_001127641

c.G1440A
c.G1440A
c.G1440A

p.P480P
p.P480P
p.P480P

-

8.342E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LAMB3

MSSNG00245-003

chr1:
209824218-209824218

C

T

intronic

De novo

-

Trost2022 G

LAMB3

F9483-1

chr1:
209800878-209800878

G

A

exonic

De novo

synonymous SNV

NM_001017402
NM_000228
NM_001127641

c.C1335T
c.C1335T
c.C1335T

p.D445D
p.D445D
p.D445D

-

5.812E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LAMB3

mAGRE5964

chr1:
209801379-209801379

C

A

splicing

Paternal

splicing

26.4

-

Cirnigliaro2023 G

LAMB3

SSC06545

chr1:
209823359-209823359

A

C

exonic

De novo

nonsynonymous SNV

NM_001017402
NM_000228
NM_001127641

c.T133G
c.T133G
c.T133G

p.S45A
p.S45A
p.S45A

22.7

-

Fu2022 E
Lim2017 E
Trost2022 G

LAMB3

SP0065193

chr1:
209800764-209800764

G

A

exonic

De novo

synonymous SNV

NM_001017402
NM_000228
NM_001127641

c.C1449T
c.C1449T
c.C1449T

p.C483C
p.C483C
p.C483C

-

5.848E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

LAMB3

2-1382-003

chr1:
209836245-209836245

C

T

intergenic

De novo

-

Yuen2016 G
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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