Variant Results

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Results for "CXXC1"

Variant Events: 11

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

CXXC1

AU4069302

chr18:
47821951-47821952

GT

G

intergenic

De novo

-

-

Yuen2017 G

CXXC1

JASD_Fam0212

chr18:
47810914-47810914

G

A

exonic

De novo

nonsynonymous SNV

NM_001101654
NM_014593

c.C1051T
c.C1039T

p.R351W
p.R347W

17.38

-

Takata2018 E

CXXC1

AU4079302

chr18:
47834260-47834260

C

T

intergenic

De novo

-

-

Yuen2017 G

CXXC1

AU4013303

chr18:
47809151-47809151

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CXXC1

2-0116-004

chr18:
47866194-47866194

A

G

intergenic

De novo

-

-

Yuen2017 G

CXXC1

1-0394-003

chr18:
47821640-47821640

T

C

intergenic

De novo

-

-

Yuen2017 G

CXXC1

SP0142129

chr18:
47813936-47813936

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

CXXC1

SP0126429

chr18:
47811575-47811575

G

A

exonic

De novo

nonsynonymous SNV

NM_001101654
NM_014593

c.C709T
c.C709T

p.R237W
p.R237W

13.44

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CXXC1

SP0148351

chr18:
47810805-47810805

G

A

exonic

De novo

nonsynonymous SNV

NM_001101654
NM_014593

c.C1160T
c.C1148T

p.P387L
p.P383L

17.07

-

Trost2022 G

CXXC1

mAGRE1448

chr18:
47811371-47811371

C

G

splicing

Paternal

splicing

11.7

-

Cirnigliaro2023 G

CXXC1

iHART1448

chr18:
47811371-47811371

C

G

splicing

Paternal

splicing

11.7

-

Ruzzo2019 G

Source Variant Information

, -

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 notes	View
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