Variant Results

or

or

Results for "REL"

Variant Events: 15

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

REL

SP0137578

chr2:
61128285-61128285

C

T

intronic

De novo

-

-

Trost2022 G

REL

MSSNG00352-003

chr2:
61131136-61131136

C

T

intronic

De novo

-

-

Trost2022 G

REL

11679.p1

chr2:
61145360-61145360

T

G

exonic

De novo

synonymous SNV

NM_001291746
NM_002908

c.T570G
c.T570G

p.R190R
p.R190R

-

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

REL

1-0636-003

chr2:
61113155-61113155

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

REL

1-0636-003

chr2:
61111565-61111565

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

REL

1-0636-003

chr2:
61108714-61108714

G

A

UTR5

De novo

-

-

Trost2022 G
Yuen2017 G

REL

SSC03262

chr2:
61145360-61145360

T

G

exonic

De novo

synonymous SNV

NM_001291746
NM_002908

c.T570G
c.T570G

p.R190R
p.R190R

-

-

Fu2022 E
Lim2017 E
Trost2022 G

REL

12382.p1

chr2:
61149578-61149578

G

A

exonic

nonsynonymous SNV

NM_001291746
NM_002908

c.G1672A
c.G1768A

p.G558S
p.G590S

0.079

-

Zhou2022 GE

REL

AU4197301

chr2:
61134752-61134752

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

REL

2-0014-003

chr2:
61150948-61150948

C

T

UTR3

De novo

-

-

Trost2022 G

REL

REACH000323

chr2:
61133255-61133255

A

G

intronic

De novo

-

-

Trost2022 G

REL

1-0628-003

chr2:
61148309-61148309

A

T

intronic

De novo

-

-

Trost2022 G

REL

12449.p1

chr2:
61117471-61117471

A

G

intronic

De novo

-

-

Turner2016 G

REL

2-1288-003

chr2:
61152522-61152522

A

G

UTR3

De novo

-

-

Yuen2017 G

REL

SP0100364

chr2:
61118902-61118902

C

G

exonic

De novo

nonsynonymous SNV

NM_001291746
NM_002908

c.C95G
c.C95G

p.A32G
p.A32G

34.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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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