Variant Results

or

Results for "ADGRL1"

Variant Events: 16

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

ADGRL1

2-1591-003

chr19:
14292666-14292666

G

A

intronic

De novo

-

Yuen2017 G

ADGRL1

2-1629-003

chr19:
14454206-14454206

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL1

AU3190305

chr19:
14308719-14308719

T

A

intronic

De novo

-

Yuen2017 G

ADGRL1

AU3190305

chr19:
14308880-14308880

G

A

intronic

De novo

-

Yuen2017 G

ADGRL1

SP0036118

chr19:
14281510-14281510

G

A

exonic

De novo

synonymous SNV

NM_001008701
NM_014921

c.C378T
c.C378T

p.Y126Y
p.Y126Y

-

1.861E-5

Fu2022 E

ADGRL1

7-0002-003

chr19:
14422858-14422858

C

CAA

intergenic

De novo

-

Yuen2017 G

ADGRL1

SP0066876

chr19:
14272263-14272263

G

A

exonic

De novo

synonymous SNV

NM_014921
NM_001008701

c.C1371T
c.C1386T

p.P457P
p.P462P

-

Fu2022 E

ADGRL1

11808.p1

Complex Event; expand row to view variants

De novo

synonymous SNV

NM_014921
NM_001008701
NM_014921
NM_001008701

c.C2727T
c.C2742T
c.C2727A
c.C2742A

p.I909I
p.I914I
p.I909I
p.I914I

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G

ADGRL1

1-0863-003

chr19:
14366361-14366361

G

C

intergenic

De novo

-

Yuen2017 G

ADGRL1

2-0310-003

chr19:
14440087-14440087

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL1

2-1364-003

chr19:
14345035-14345035

A

T

intergenic

De novo

-

Yuen2017 G

ADGRL1

DEASD_0338_001

chr19:
14271102-14271102

C

G

exonic

De novo

nonsynonymous SNV

NM_014921
NM_001008701

c.G1622C
c.G1637C

p.S541T
p.S546T

17.84

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ADGRL1

UK10K_SKUSE5080230

chr19:
14273591-14273591

T

C

exonic

De novo

nonsynonymous SNV

NM_014921
NM_001008701

c.A1022G
c.A1037G

p.Y341C
p.Y346C

20.7

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ADGRL1

2-1296-003

chr19:
14443576-14443576

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL1

SSC03232

chr19:
14268081-14268081

G

A

exonic

De novo

synonymous SNV

NM_014921
NM_001008701

c.C2727T
c.C2742T

p.I909I
p.I914I

-

Fu2022 E
Lim2017 E

ADGRL1

AU2117302

chr19:
14349212-14349212

T

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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