Variant Results

or

or

Results for "CD1A"

Variant Events: 16

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

CD1A

mAGRE2899

chr1:
158226648-158226648

C

G

exonic

Paternal

stopgain

NM_001763

c.C677G

p.S226X

40.0

-

Cirnigliaro2023 G

CD1A

mAGRE4627

chr1:
158226629-158226629

C

T

exonic

Maternal

stopgain

NM_001763

c.C658T

p.Q220X

28.8

Cirnigliaro2023 G

CD1A

mAGRE2934

chr1:
158226629-158226629

C

T

exonic

Maternal

stopgain

NM_001763

c.C658T

p.Q220X

28.8

Cirnigliaro2023 G

CD1A

iHART2934

chr1:
158226629-158226629

C

T

exonic

Maternal

stopgain

NM_001763

c.C658T

p.Q220X

28.8

Ruzzo2019 G

CD1A

iHART2902

chr1:
158226648-158226648

C

G

exonic

Paternal

stopgain

NM_001763

c.C677G

p.S226X

40.0

-

Ruzzo2019 G

CD1A

iHART2903

chr1:
158226648-158226648

C

G

exonic

Paternal

stopgain

NM_001763

c.C677G

p.S226X

40.0

-

Ruzzo2019 G

CD1A

mAGRE2903

chr1:
158226648-158226648

C

G

exonic

Paternal

stopgain

NM_001763

c.C677G

p.S226X

40.0

-

Cirnigliaro2023 G

CD1A

mAGRE2902

chr1:
158226648-158226648

C

G

exonic

Paternal

stopgain

NM_001763

c.C677G

p.S226X

40.0

-

Cirnigliaro2023 G

CD1A

mAGRE2901

chr1:
158226648-158226648

C

G

exonic

Paternal

stopgain

NM_001763

c.C677G

p.S226X

40.0

-

Cirnigliaro2023 G

CD1A

A16

chr1:
158241331-158241331

A

G

intergenic

De novo

-

-

Wu2018 G

CD1A

iHART2899

chr1:
158226648-158226648

C

G

exonic

Paternal

stopgain

NM_001763

c.C677G

p.S226X

40.0

-

Ruzzo2019 G

CD1A

iHART2901

chr1:
158226648-158226648

C

G

exonic

Paternal

stopgain

NM_001763

c.C677G

p.S226X

40.0

-

Ruzzo2019 G

CD1A

AU06304

chr1:
158226779-158226779

G

A

exonic

De novo

nonsynonymous SNV

NM_001763

c.G808A

p.A270T

8.748

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CD1A

1-0007-003

chr1:
158255808-158255822

ATCTCTCTCTCTCTC

ATCTCTCTCTCTC

intergenic

De novo

-

-

Yuen2017 G

CD1A

1-0469-003

chr1:
158227555-158227559

CCTGA

TCGTG

UTR3

De novo

-

-

Trost2022 G

CD1A

1-0714-003

chr1:
158225834-158225834

C

A

exonic

De novo

nonsynonymous SNV

NM_001763

c.C366A

p.H122Q

8.879

-

Trost2022 G
Zhou2022 GE

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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