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Results for "HCRTR2"

Variant Events: 22

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
HCRTR2     11265.p1chr6:
55150436-55150436
CTintergenicDe novo--Werling2018 G
HCRTR2     mAGRE5808chr6:
55128621-55128625
GTATAGsplicingPaternalsplicing-9.417E-6Cirnigliaro2023 G
HCRTR2     mAGRE5807chr6:
55128621-55128625
GTATAGsplicingPaternalsplicing-9.417E-6Cirnigliaro2023 G
HCRTR2     AU065304chr6:
55084872-55084872
TCintronicDe novo--Trost2022 G
Yuen2017 G
HCRTR2     SP0120545chr6:
55113453-55113453
GAexonicDe novostopgainNM_001526c.G240Ap.W80X39.0-Fu2022 E
Trost2022 G
Zhou2022 GE
HCRTR2     AUTPGX_1017chr6:
55064426-55064426
CTintronicDe novo--Trost2022 G
HCRTR2     1-1131-003chr6:
55069451-55069451
GAintronicDe novo--Trost2022 G
HCRTR2     MSSNG00405-003chr6:
55062465-55062465
GTintronicDe novo--Trost2022 G
HCRTR2     SP0052923chr6:
55113432-55113432
AGintronicDe novo--Fu2022 E
Zhou2022 GE
HCRTR2     MSSNG00041-003chr6:
55063387-55063387
TGintronicDe novo--Trost2022 G
HCRTR2     AU008505chr6:
55075375-55075375
GAintronicDe novo--Trost2022 G
Yuen2017 G
HCRTR2     AU3859301chr6:
55114144-55114144
CTintronicDe novo--Trost2022 G
Yuen2017 G
HCRTR2     7-0429-003chr6:
55056945-55056945
ATintronicDe novo--Trost2022 G
HCRTR2     1-0482-003chr6:
55145909-55145909
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
HCRTR2     AU3343301chr6:
55062569-55062569
GTintronicDe novo--Trost2022 G
Yuen2017 G
HCRTR2     AU3808305chr6:
55178417-55178417
TCintergenicDe novo--Yuen2017 G
HCRTR2     1-1005-005Achr6:
55103562-55103562
AGintronicDe novo--Trost2022 G
HCRTR2     REACH000258chr6:
55134208-55134208
GAintronicDe novo--Trost2022 G
HCRTR2     AU2793301chr6:
55060798-55060798
ACintronicDe novo--Trost2022 G
Yuen2017 G
HCRTR2     3-0422-000chr6:
55072053-55072053
GCintronicDe novo--Trost2022 G
HCRTR2     MSSNG00100-003chr6:
55083702-55083702
AGintronicDe novo--Trost2022 G
HCRTR2     1-0629-003chr6:
55125373-55125373
GAintronicDe novo--Trost2022 G
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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