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Results for "GUCY2C"

Variant Events: 13

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
GUCY2C     13000.p1chr12:
14805939-14805939
CTexonicMosaicnonsynonymous SNVNM_004963c.G1480Ap.D494N26.7-Dou2017 E
Krupp2017 E
GUCY2C     AU3874303chr12:
14861504-14861504
AGintergenicDe novo--Yuen2017 G
GUCY2C     2-1148-004chr12:
14895133-14895133
CGintergenicDe novo--Yuen2017 G
GUCY2C     SSC07099chr12:
14805939-14805939
CTexonicMosaicnonsynonymous SNVNM_004963c.G1480Ap.D494N26.7-Lim2017 E
GUCY2C     74-0265chr12:
14811277-14811277
AGintronicDe novo--Michaelson2012 G
GUCY2C     AU046904chr12:
14874013-14874013
AGintergenicDe novo--Yuen2017 G
GUCY2C     1-0272-004chr12:
14859165-14859166
TGTintergenicDe novo--Yuen2017 G
GUCY2C     2-1399-003chr12:
14779339-14779339
TCintronicDe novo--Yuen2017 G
GUCY2C     AU000704chr12:
14790391-14790397
CAAAAAACAAAAAAAintronicDe novo--Yuen2017 G
GUCY2C     1-0914-003chr12:
14919819-14919819
CTintergenicDe novo--Yuen2017 G
GUCY2C     iHART2310chr12:
14804964-14804964
GAexonicPaternalstopgainNM_004963c.C1534Tp.R512X38.0-Ruzzo2019 G
GUCY2C     iHART2578chr12:
14839112-14839112
GGTexonicMaternalstopgainNM_004963c.377dupAp.Y126_S127delinsX-5.938E-5Ruzzo2019 G
GUCY2C     iHART2577chr12:
14839112-14839112
GGTexonicMaternalstopgainNM_004963c.377dupAp.Y126_S127delinsX-5.938E-5Ruzzo2019 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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