Variant Results

or

Results for "SRBD1"

Variant Events: 19

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

SRBD1

1-0629-003

chr2:
45729809-45729809

G

A

intronic

De novo

-

Yuen2017 G

SRBD1

1-0261-004

chr2:
45822709-45822709

T

G

intronic

De novo

-

Yuen2017 G

SRBD1

1-0511-003

chr2:
45630231-45630231

T

C

intronic

De novo

-

Yuen2017 G

SRBD1

MT_69

chr2:
45780792-45780792

A

C

exonic

Maternal

nonsynonymous SNV

NM_018079

c.T1487G

p.L496R

17.65

-

Toma2013 E

SRBD1

1-0445-003

chr2:
45764782-45764782

T

G

intronic

De novo

-

Yuen2017 G

SRBD1

1-0441-003

chr2:
45854143-45854143

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SRBD1

AU2139301

chr2:
45731153-45731153

T

A

intronic

De novo

-

Yuen2017 G

SRBD1

10C103541

chr2:
45778322-45778322

T

A

exonic

De novo

nonsynonymous SNV

NM_018079

c.A1617T

p.L539F

20.5

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SRBD1

2-1594-003

chr2:
45837693-45837693

T

A

intronic

De novo

-

Yuen2017 G

SRBD1

12238.p1

chr2:
45789855-45789855

G

A

exonic

De novo

nonsynonymous SNV

NM_018079

c.C1346T

p.T449M

19.06

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

SRBD1

2-0285-004

chr2:
45634037-45634037

C

T

intronic

De novo

-

Yuen2017 G

SRBD1

5-0110-003

chr2:
45666861-45666861

A

C

intronic

De novo

-

Yuen2017 G

SRBD1

7-0103-003

chr2:
45819283-45819283

C

T

intronic

De novo

-

Yuen2017 G

SRBD1

5-0095-003

chr2:
45805882-45805882

C

A

intronic

De novo

-

Yuen2017 G

SRBD1

AU3787302

chr2:
45860814-45860814

C

A

intergenic

De novo

-

Yuen2017 G

SRBD1

AU1687302

chr2:
45691103-45691103

G

A

intronic

De novo

-

Yuen2017 G

SRBD1

AU2035301

chr2:
45706409-45706409

C

T

intronic

De novo

-

Yuen2017 G

SRBD1

AU1687303

chr2:
45691103-45691103

G

A

intronic

De novo

-

Yuen2017 G

SRBD1

AU2035302

chr2:
45706409-45706409

C

T

intronic

De novo

-

Yuen2017 G

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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