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Results for "HCAR1"

Variant Events: 20

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
HCAR1     1-0206-003chr12:
123225520-123225520
CTintergenicDe novo--Yuen2017 G
HCAR1     5-0003-003chr12:
123225509-123225509
GTintergenicDe novo--Yuen2017 G
HCAR1     09C99837chr12:
123213933-123213933
GAexonicDe novosynonymous SNVNM_032554c.C954Tp.L318L-8.236E-6Fu2022 E
Satterstrom2020 E
HCAR1     2-0307-004chr12:
123225520-123225520
CTintergenicDe novo--Yuen2017 G
HCAR1     AU4243302chr12:
123225016-123225016
TAintergenicDe novo--Yuen2017 G
HCAR1     12483_p1chr12:
123214180-123214180
CTexonicDe novononsynonymous SNVNM_032554c.G707Ap.S236N19.74-Fu2022 E
HCAR1     12483.p1chr12:
123214180-123214180
CTexonicDe novononsynonymous SNVNM_032554c.G707Ap.S236N19.74-Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
HCAR1     2-1314-003chr12:
123213933-123213933
GAexonicDe novosynonymous SNVNM_032554c.C954Tp.L318L-8.236E-6Jiang2013 G
Yuen2016 G
HCAR1     1-0763-004chr12:
123225528-123225528
CTintergenicDe novo--Yuen2017 G
HCAR1     2-1174-005Bchr12:
123225509-123225509
GTintergenicDe novo--Yuen2017 G
HCAR1     2-1738-003chr12:
123222967-123222967
GAintergenicDe novo--Yuen2017 G
HCAR1     2-1350-003chr12:
123225520-123225520
CTintergenicDe novo--Yuen2017 G
HCAR1     iHART1413chr12:
123214565-123214567
CCGCexonicMaternalframeshift deletionNM_032554c.320_321delp.T107fs-6.607E-5Ruzzo2019 G
HCAR1     1-0526-003chr12:
123225509-123225509
GTintergenicDe novo--Yuen2017 G
HCAR1     iHART1412chr12:
123214565-123214567
CCGCexonicMaternalframeshift deletionNM_032554c.320_321delp.T107fs-6.607E-5Ruzzo2019 G
HCAR1     1-0305-004chr12:
123225520-123225520
CTintergenicDe novo--Yuen2017 G
HCAR1     7-0100-004chr12:
123225523-123225523
CGintergenicDe novo--Yuen2017 G
HCAR1     1-0138-003chr12:
123225531-123225531
CGintergenicDe novo--Yuen2017 G
HCAR1     1-0565-003chr12:
123225520-123225520
CTintergenicDe novo--Yuen2017 G
HCAR1     1-0158-003chr12:
123225520-123225520
CTintergenicDe 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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