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Results for "ST7L"

Variant Events: 11

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
ST7L     1-0885-003chr1:
113142702-113142702
GAintronicDe novo--Yuen2017 G
ST7L     1-0104-003chr1:
113122260-113122260
AGintronicDe novo--Yuen2017 G
ST7L     2-1066-003chr1:
113149620-113149620
GAintronicDe novo--Yuen2017 G
ST7L     iHART1157chr1:
113126600-113126600
GAexonicMaternalstopgainNM_001308264
NM_017744
NM_138727
NM_138728
NM_138729
c.C301T
c.C850T
c.C799T
c.C850T
c.C850T
p.Q101X
p.Q284X
p.Q267X
p.Q284X
p.Q284X
22.7-Ruzzo2019 G
ST7L     Lim2017:5913chr1:
113126719-113126719
TCexonicDe novononsynonymous SNVNM_001308264
NM_017744
NM_138727
NM_138728
NM_138729
c.A182G
c.A731G
c.A680G
c.A731G
c.A731G
p.E61G
p.E244G
p.E227G
p.E244G
p.E244G
29.9-Lim2017 E
ST7L     AU3964302chr1:
113086301-113086301
GAintronicDe novo--Yuen2017 G
ST7L     13159.p1chr1:
113126761-113126761
CTintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ST7L     AU01204chr1:
113084629-113084629
TCexonicDe novononsynonymous SNVNM_001308264
NM_138728
NM_017744
NM_138727
NM_138729
c.A1024G
c.A1480G
c.A1573G
c.A1522G
c.A1573G
p.M342V
p.M494V
p.M525V
p.M508V
p.M525V
11.37-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ST7L     1-0651-003chr1:
113117150-113117150
GAintronicDe novo--Yuen2017 G
ST7L     XJ500_XC485chr1:
113113879-113113879
GAintronicDe novo--Satterstrom2020 E
ST7L     NP071chr1:
113098571-113098571
TCexonicDe novononsynonymous SNVNM_001308264
NM_017744
NM_138727
NM_138728
NM_138729
c.A766G
c.A1315G
c.A1264G
c.A1315G
c.A1315G
p.I256V
p.I439V
p.I422V
p.I439V
p.I439V
10.35-Satterstrom2020 E
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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