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Results for "ADGRL1"

Variant Events: 14

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     2-1591-003chr19:
14292666-14292666
GAintronicDe novo--Yuen2017 G
ADGRL1     2-1629-003chr19:
14454206-14454206
TCintergenicDe novo--Yuen2017 G
ADGRL1     AU3190305chr19:
14308719-14308719
TAintronicDe novo--Yuen2017 G
ADGRL1     AU3190305chr19:
14308880-14308880
GAintronicDe novo--Yuen2017 G
ADGRL1     7-0002-003chr19:
14422858-14422858
CCAAintergenicDe novo--Yuen2017 G
ADGRL1     11808.p1 Complex Event; expand row to view variants  De novosynonymous SNVNM_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     1-0863-003chr19:
14366361-14366361
GCintergenicDe novo--Yuen2017 G
ADGRL1     2-0310-003chr19:
14440087-14440087
CTintergenicDe novo--Yuen2017 G
ADGRL1     2-1364-003chr19:
14345035-14345035
ATintergenicDe novo--Yuen2017 G
ADGRL1     DEASD_0338_001chr19:
14271102-14271102
CGexonicDe novononsynonymous SNVNM_014921
NM_001008701
c.G1622C
c.G1637C
p.S541T
p.S546T
17.84-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ADGRL1     UK10K_SKUSE5080230chr19:
14273591-14273591
TCexonicDe novononsynonymous SNVNM_014921
NM_001008701
c.A1022G
c.A1037G
p.Y341C
p.Y346C
20.7-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ADGRL1     2-1296-003chr19:
14443576-14443576
AGintergenicDe novo--Yuen2017 G
ADGRL1     SSC03232chr19:
14268081-14268081
GAexonicDe novosynonymous SNVNM_014921
NM_001008701
c.C2727T
c.C2742T
p.I909I
p.I914I
--Lim2017 E
ADGRL1     AU2117302chr19:
14349212-14349212
TCintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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 notesView
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