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Results for "GLIPR1L2"

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
GLIPR1L2     11432.p1chr12:
75796795-75796795
ACintronicDe novo14.2-Turner2017 G
Wilfert2021 G
GLIPR1L2     5-0105-003chr12:
75787140-75787140
GAintronicDe novo--Yuen2017 G
GLIPR1L2     AC02-1198-01chr12:
75785155-75785155
ACintronicDe novo-0.0033Kosmicki2017 E
Satterstrom2020 E
GLIPR1L2     1-0636-003chr12:
75809867-75809868
ATAintronicDe novo--Yuen2017 G
GLIPR1L2     AU055004chr12:
75870945-75870945
ACintergenicDe novo--Yuen2017 G
GLIPR1L2     AU4013302chr12:
75788485-75788485
GTintronicDe novo--Yuen2017 G
GLIPR1L2     1-0460-003chr12:
75804462-75804462
AGintronicDe novo--Yuen2017 G
GLIPR1L2     AU3809302chr12:
75793745-75793745
GAintronicDe novo--Yuen2017 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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