Variant Results

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or

Results for "LRCH4"

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

LRCH4

11502_p1

chr7:
100183600-100183600

C

T

exonic

De novo

nonsynonymous SNV

NM_001289934
NM_002319

c.G124A
c.G124A

p.V42M
p.V42M

22.5

-

Fu2022 E

LRCH4

mAGRE1257

chr7:
100174354-100174355

GT

G

exonic

Maternal

frameshift deletion

NM_001289934
NM_002319

c.1514delA
c.1514delA

p.N505fs
p.N505fs

-

-

Cirnigliaro2023 G

LRCH4

mAGRE5247

chr7:
100174316-100174316

C

T

splicing

Maternal

splicing

12.88

-

Cirnigliaro2023 G

LRCH4

iHART1257

chr7:
100174354-100174355

GT

G

exonic

Maternal

frameshift deletion

NM_001289934
NM_002319

c.1514delA
c.1514delA

p.N505fs
p.N505fs

-

-

Ruzzo2019 G

LRCH4

mAGRE5246

chr7:
100174316-100174316

C

T

splicing

Maternal

splicing

12.88

-

Cirnigliaro2023 G

LRCH4

iHART1259

chr7:
100174354-100174355

GT

G

exonic

Maternal

frameshift deletion

NM_001289934
NM_002319

c.1514delA
c.1514delA

p.N505fs
p.N505fs

-

-

Ruzzo2019 G

LRCH4

SP0034655

chr7:
100179690-100179690

C

T

exonic

De novo

nonsynonymous SNV

NM_001289934
NM_002319

c.G466A
c.G466A

p.G156S
p.G156S

8.269

Fu2022 E
Trost2022 G
Zhou2022 GE

LRCH4

11502.p1

chr7:
100183600-100183600

C

T

exonic

De novo

nonsynonymous SNV

NM_001289934
NM_002319

c.G124A
c.G124A

p.V42M
p.V42M

22.5

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

LRCH4

AU3368303

chr7:
100172811-100172811

A

G

exonic

De novo

synonymous SNV

NM_002319

c.T1971C

p.S657S

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

LRCH4

mAGRE1259

chr7:
100174354-100174355

GT

G

exonic

Maternal

frameshift deletion

NM_001289934
NM_002319

c.1514delA
c.1514delA

p.N505fs
p.N505fs

-

-

Cirnigliaro2023 G

LRCH4

SP0082143

chr7:
100173706-100173706

A

C

intronic

De novo

-

-

Fu2022 E

LRCH4

SP0024703

chr7:
100174382-100174382

C

T

exonic

De novo

nonsynonymous SNV

NM_001289934
NM_002319

c.G1487A
c.G1487A

p.R496Q
p.R496Q

10.77

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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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