or
or
Exact

Results for "LPGAT1"

Variant Events: 14

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
LPGAT1     2-1375-003chr1:
212056326-212056326
GAintergenicDe novo--Yuen2017 G
LPGAT1     1-0565-004chr1:
212106295-212106297
CATCintergenicDe novo--Yuen2017 G
LPGAT1     AU045512chr1:
212101038-212101038
CAintergenicDe novo--Yuen2017 G
LPGAT1     1-0565-003chr1:
212106295-212106297
CATCintergenicDe novo--Yuen2017 G
LPGAT1     AU3760301chr1:
211934249-211934249
ATintronicDe novo--Trost2022 G
Yuen2017 G
LPGAT1     AU3610302chr1:
211918971-211918971
TCUTR3De novo--Trost2022 G
Yuen2017 G
LPGAT1     SP0140028chr1:
211924322-211924324
TAATexonicDe novoframeshift deletionNM_014873c.940_941delp.L314fs--Antaki2022 GE
Fu2022 E
Zhou2022 GE
LPGAT1     1-0028-003chr1:
212094005-212094022
ATTTATTTTTTATTTTTTATTTATTTTTTintergenicDe novo--Yuen2017 G
LPGAT1     1-1066-003chr1:
212002300-212002300
AGintronicDe novo--Trost2022 G
LPGAT1     AU0452304chr1:
212053357-212053357
GAintergenicDe novo--Yuen2017 G
LPGAT1     2-0098-003chr1:
211934800-211934800
ATintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LPGAT1     3-0338-000chr1:
211995876-211995876
TCintronicDe novo--Trost2022 G
LPGAT1     2-1167-003chr1:
212086748-212086748
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
LPGAT1     2-1743-004Achr1:
211966234-211966234
ACintronicDe novo--Trost2022 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 notesView
More