Variant Results

or

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

1-0885-003

chr1:
113142702-113142702

G

A

intronic

De novo

-

Yuen2017 G

ST7L

1-0104-003

chr1:
113122260-113122260

A

G

intronic

De novo

-

Yuen2017 G

ST7L

2-1066-003

chr1:
113149620-113149620

G

A

intronic

De novo

-

Yuen2017 G

ST7L

iHART1157

chr1:
113126600-113126600

G

A

exonic

Maternal

stopgain

NM_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

Lim2017:5913

chr1:
113126719-113126719

T

C

exonic

De novo

nonsynonymous SNV

NM_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

AU3964302

chr1:
113086301-113086301

G

A

intronic

De novo

-

Yuen2017 G

ST7L

13159.p1

chr1:
113126761-113126761

C

T

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ST7L

AU01204

chr1:
113084629-113084629

T

C

exonic

De novo

nonsynonymous SNV

NM_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

1-0651-003

chr1:
113117150-113117150

G

A

intronic

De novo

-

Yuen2017 G

ST7L

XJ500_XC485

chr1:
113113879-113113879

G

A

intronic

De novo

-

Satterstrom2020 E

ST7L

NP071

chr1:
113098571-113098571

T

C

exonic

De novo

nonsynonymous SNV

NM_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

, -

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 notes	View
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