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Results for "ADGB"

Variant Events: 23

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
ADGB     iHART3090chr6:
147090155-147090155
GAsplicingMaternalsplicing14.582.0E-4Ruzzo2019 G
ADGB     1-0590-003chr6:
147107256-147107256
AGintronicDe novo--Yuen2017 G
ADGB     2-0323-003chr6:
147111587-147111587
CTintronicDe novo--Yuen2017 G
ADGB     1-0345-003chr6:
146980127-146980127
GCintronicDe novo--Yuen2017 G
ADGB     1-0218-004chr6:
147057501-147057501
AGintronicDe novo--Yuen2017 G
ADGB     2-1429-004chr6:
146943218-146943218
ATintronicDe novo--Yuen2017 G
ADGB     1-0075-003chr6:
146974117-146974117
CTintronicDe novo--Yuen2017 G
ADGB     AU3951302chr6:
147110726-147110726
TCintronicDe novo--Yuen2017 G
ADGB     SP0010993chr6:
147123049-147123049
CTexonicDe novostopgainNM_024694c.C4720Tp.R1574X37.04.577E-5Fu2022 E
Zhou2022 GE
ADGB     AGG0091chr6:
147122366-147122366
CTexonicDe novostopgainNM_024694c.C4585Tp.R1529X12.88-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADGB     SP0065656chr6:
146975279-146975279
AGexonicDe novosynonymous SNVNM_024694c.A339Gp.V113V--Fu2022 E
Zhou2022 GE
ADGB     2-1427-003chr6:
146997948-146997948
CAintronicDe novo--Yuen2017 G
ADGB     5-0065-003chr6:
147013363-147013363
CGintronicDe novo--Yuen2017 G
ADGB     mAGRE3090chr6:
147090155-147090155
GAsplicingMaternalsplicing14.582.0E-4Cirnigliaro2023 G
ADGB     mAGRE4631chr6:
147013960-147013960
GAsplicingPaternalsplicing15.88-Cirnigliaro2023 G
ADGB     5-0077-004chr6:
147014810-147014810
GTintronicDe novo--Yuen2017 G
ADGB     1-0352-003chr6:
147116690-147116690
CAintronicDe novo--Yuen2016 G
ADGB     mAGRE4630chr6:
147013960-147013960
GAsplicingPaternalsplicing15.88-Cirnigliaro2023 G
ADGB     SMHC01673s000chr6:
147049720-147049720
GAexonicDe novononsynonymous SNVNM_024694c.G2363Ap.R788Q16.12-Yuan2023 E
ADGB     1-0352-005chr6:
147116690-147116690
CAintronicDe novo--Yuen2017 G
ADGB     AU021204chr6:
146997728-146997728
GAintronicDe novo--Yuen2017 G
ADGB     AU3343301chr6:
147117617-147117618
AGAintronicDe novo--Yuen2017 G
ADGB     AU4176302chr6:
146970495-146970495
TCintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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