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Results for "PCYT1A"

Variant Events: 8

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     13922.p1chr3:
195966607-195966611
CTAGACsplicingDe novosplicing-8.299E-6Dong2014 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Willsey2013 E
PCYT1A     1-0169-003chr3:
196005667-196005667
AGintronicDe novo--Yuen2017 G
PCYT1A     5F620chr3:
195975189-195975189
GAexonicDe novostopgainNM_001312673
NM_005017
c.C223T
c.C223T
p.R75X
p.R75X
21.1-Satterstrom2020 E
PCYT1A     1-0028-003chr3:
195990754-195990754
CTintronicDe novo--Yuen2017 G
PCYT1A     12392.p1chr3:
195968979-195968979
AGintronicMosaic, De novo--Dou2017 E
Iossifov2014 E
Kosmicki2017 E
PCYT1A     AU072004chr3:
195994390-195994390
GAintronicDe novo--Yuen2017 G
PCYT1A     AU4263304chr3:
195971419-195971419
GAintronicDe novo--Yuen2017 G
PCYT1A     iHART2480chr3:
195997414-195997414
TAsplicingMaternalsplicing--Ruzzo2019 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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