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Results for "SGIP1"

Variant Events: 9

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
SGIP1     AU047704chr1:
67144949-67144949
AGintronicDe novo--Yuen2017 G
SGIP1     AU072004chr1:
67211128-67211128
GTUTR3De novo--Yuen2017 G
SGIP1     A30chr1:
67043659-67043659
TCintronicDe novo--Wu2018 G
SGIP1     10C109647chr1:
67154953-67154953
GAexonicDe novononsynonymous SNVNM_001308203
NM_032291
c.G841A
c.G1438A
p.D281N
p.D480N
35.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SGIP1     1-0120-003chr1:
67129197-67129197
GAintronicDe novo--Yuen2017 G
SGIP1     7-0102-003chr1:
67199956-67199956
CTintronicDe novo--Yuen2017 G
SGIP1     AU003406chr1:
67071373-67071373
GAintronicDe novo--Yuen2017 G
SGIP1     1-0640-003chr1:
67148520-67148525
TTTCTTTTTintronicDe novo--Yuen2017 G
SGIP1     AU4093302chr1:
67050846-67050846
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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