Variant Results

or

Results for "PCYT1A"

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

PCYT1A

1-0169-003

chr3:
196005667-196005667

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCYT1A

5F620

chr3:
195975189-195975189

G

A

exonic

De novo

stopgain

NM_001312673
NM_005017

c.C223T
c.C223T

p.R75X
p.R75X

21.1

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PCYT1A

1-0028-003

chr3:
195990754-195990754

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCYT1A

1-0239-003

chr3:
195977311-195977311

T

C

intronic

De novo

-

Trost2022 G

PCYT1A

1-1148-003

chr3:
195999912-195999912

G

A

intronic

De novo

-

Trost2022 G

PCYT1A

SSC09749

chr3:
195966607-195966611

CTAGA

C

splicing

De novo

splicing

-

8.299E-6

Fu2022 E
Trost2022 G

PCYT1A

mAGRE2480

chr3:
195997414-195997414

T

A

splicing

Maternal

splicing

-

Cirnigliaro2023 G

PCYT1A

13922.p1

chr3:
195966607-195966611

CTAGA

C

splicing

De novo

splicing

-

8.299E-6

Dong2014 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Willsey2013 E
Zhou2022 GE

PCYT1A

2-1120-003

chr3:
196006998-196006998

G

A

intronic

De novo

-

Trost2022 G

PCYT1A

12392.p1

chr3:
195968979-195968979

A

G

intronic

Mosaic, De novo

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E

PCYT1A

AU072004

chr3:
195994390-195994390

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCYT1A

AU4263304

chr3:
195971419-195971419

G

A

intronic

De novo

-

Yuen2017 G

PCYT1A

iHART2480

chr3:
195997414-195997414

T

A

splicing

Maternal

splicing

-

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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